### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR13) # 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}}" "WDR13" "WD repeat domain 13" "X" "p11.23" "unknown" "NG_015879.1" "UD_132118664272" "" "http://www.LOVD.nl/WDR13" "" "1" "14352" "64743" "300512" "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" "http://databases.lovd.nl/shared/refseq/WDR13_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2014-11-04 22:33:44" "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}}" "00000668" "WDR13" "transcript variant 2" "003" "NM_001166426.1" "" "NP_001159898.1" "" "" "" "-1116" "1344" "1182" "48456224" "48463582" "00000" "2012-09-13 12:45:32" "" "" "00023974" "WDR13" "transcript variant 1" "001" "NM_017883.4" "" "NP_060353.2" "" "" "" "-505" "1620" "1458" "48455880" "48463582" "00006" "2014-11-04 22:16:58" "" "" ## 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}}" "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" "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 = 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" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00024222" "" "" "" "3" "" "00006" "{PMID:Wibley 2010:20655035}" "4-generation family, 3 affecteds, 2 carrier females" "M" "" "" "" "0" "" "" "" "" "00172813" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00387735" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, third cousin parents" "" "yes" "" "" "0" "" "" "Azeri" "M235" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00024222" "00187" "00172813" "00187" "00387735" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157 ## 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}}" "0000020329" "00187" "00024222" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "0000137677" "00187" "00172813" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000281303" "00139" "00387735" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" ## 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" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000024214" "00024222" "1" "00006" "00006" "2014-11-04 22:20:54" "00006" "2014-11-04 22:30:12" "arrayCGH;SEQ" "DNA" "" "" "0000173696" "00172813" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000388966" "00387735" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000024214" "WDR13" "0000173696" "PLCXD1" "0000388966" "WDR13" ## 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 = 48 "{{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}}" "0000002950" "0" "50" "X" "48457034" "48457034" "del" "0" "00037" "WDR13_000024" "g.48457034del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48598646del" "" "VUS" "" "0000006808" "20" "50" "X" "48456223" "48456223" "subst" "0" "00037" "WDR13_000015" "g.48456223G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48597835G>T" "" "VUS" "" "0000006809" "20" "50" "X" "48459102" "48459102" "subst" "0" "00037" "WDR13_000017" "g.48459102C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600714C>G" "" "VUS" "" "0000006810" "20" "50" "X" "48459962" "48459962" "subst" "0" "00037" "WDR13_000020" "g.48459962G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48601574G>A" "" "VUS" "" "0000006811" "20" "50" "X" "48460314" "48460314" "subst" "0.999946" "00037" "WDR13_000001" "g.48460314A>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "g.48601926A>G" "" "VUS" "" "0000006812" "20" "50" "X" "48460625" "48460625" "subst" "0.878789" "00037" "WDR13_000004" "g.48460625G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48602237G>C" "" "VUS" "" "0000006813" "20" "50" "X" "48460781" "48460781" "subst" "0" "00037" "WDR13_000007" "g.48460781G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48602393G>A" "" "VUS" "" "0000006814" "20" "50" "X" "48460894" "48460894" "subst" "0" "00037" "WDR13_000010" "g.48460894A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48602506A>G" "" "VUS" "" "0000006815" "20" "50" "X" "48462972" "48462972" "subst" "0" "00037" "WDR13_000012" "g.48462972C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48604584C>T" "" "VUS" "" "0000008887" "20" "50" "X" "48456223" "48456223" "subst" "0" "00037" "WDR13_000015" "g.48456223G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48597835G>T" "" "VUS" "" "0000008888" "20" "50" "X" "48459102" "48459102" "subst" "0" "00037" "WDR13_000017" "g.48459102C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600714C>G" "" "VUS" "" "0000008889" "20" "50" "X" "48459962" "48459962" "subst" "0" "00037" "WDR13_000020" "g.48459962G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48601574G>A" "" "VUS" "" "0000008890" "20" "50" "X" "48460314" "48460314" "subst" "0.999946" "00037" "WDR13_000001" "g.48460314A>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "g.48601926A>G" "" "VUS" "" "0000008891" "20" "50" "X" "48460625" "48460625" "subst" "0.878789" "00037" "WDR13_000004" "g.48460625G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48602237G>C" "" "VUS" "" "0000008892" "20" "50" "X" "48460781" "48460781" "subst" "0" "00037" "WDR13_000007" "g.48460781G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48602393G>A" "" "VUS" "" "0000008893" "20" "50" "X" "48462972" "48462972" "subst" "0" "00037" "WDR13_000012" "g.48462972C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48604584C>T" "" "VUS" "" "0000014782" "20" "50" "X" "48460894" "48460894" "subst" "0" "00037" "WDR13_000010" "g.48460894A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48602506A>G" "" "VUS" "" "0000046752" "21" "70" "X" "48460082" "48463106" "del" "0" "00006" "WDR13_000025" "g.48460082_48463106del" "" "" "" "hg18 chrX:g.48345024_48348048del" "not in 615 controls; 12 bp duplication" "Germline" "yes" "" "0" "" "" "g.48601694_48604718del" "" "likely pathogenic" "" "0000319798" "0" "30" "X" "48457285" "48457285" "subst" "8.16712E-5" "01943" "WDR13_000027" "g.48457285T>C" "" "" "" "WDR13(NM_017883.5):c.222T>C (p.S74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48598897T>C" "" "likely benign" "" "0000319799" "0" "50" "X" "48458931" "48458931" "subst" "0" "01943" "WDR13_000028" "g.48458931C>T" "" "" "" "WDR13(NM_001166426.2):c.472C>T (p.R158C), WDR13(NM_001166426.3):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48600543C>T" "" "VUS" "" "0000319800" "0" "30" "X" "48460222" "48460222" "subst" "0.000280589" "01943" "WDR13_000030" "g.48460222G>A" "" "" "" "WDR13(NM_001166426.2):c.606G>A (p.K202=), WDR13(NM_001347217.2):c.882G>A (p.K294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48601834G>A" "" "likely benign" "" "0000319801" "0" "50" "X" "48460232" "48460232" "subst" "0.000113484" "01943" "WDR13_000031" "g.48460232G>T" "" "" "" "WDR13(NM_001166426.1):c.616G>T (p.(Gly206Trp)), WDR13(NM_001166426.2):c.616G>T (p.G206W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48601844G>T" "" "VUS" "" "0000319802" "0" "50" "X" "48460302" "48460302" "subst" "0" "01943" "WDR13_000032" "g.48460302C>T" "" "" "" "WDR13(NM_001166426.2):c.686C>T (p.A229V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48601914C>T" "" "VUS" "" "0000319803" "0" "30" "X" "48460322" "48460322" "subst" "0.000657074" "01943" "WDR13_000033" "g.48460322G>A" "" "" "" "WDR13(NM_001166426.1):c.706G>A (p.(Val236Ile)), WDR13(NM_001166426.2):c.706G>A (p.V236I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48601934G>A" "" "likely benign" "" "0000333993" "0" "50" "X" "48457141" "48457141" "subst" "4.64552E-5" "01804" "WDR13_000026" "g.48457141T>C" "" "" "" "WDR13(NM_001166426.1):c.-199T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48598753T>C" "" "VUS" "" "0000333995" "0" "50" "X" "48460232" "48460232" "subst" "0.000113484" "01804" "WDR13_000031" "g.48460232G>T" "" "" "" "WDR13(NM_001166426.1):c.616G>T (p.(Gly206Trp)), WDR13(NM_001166426.2):c.616G>T (p.G206W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48601844G>T" "" "VUS" "" "0000341374" "0" "50" "X" "48460302" "48460302" "subst" "0" "02327" "WDR13_000032" "g.48460302C>T" "" "" "" "WDR13(NM_001166426.2):c.686C>T (p.A229V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48601914C>T" "" "VUS" "" "0000342128" "0" "70" "X" "48458736" "48458736" "subst" "0" "02327" "WDR13_000034" "g.48458736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48600348C>T" "" "likely pathogenic" "" "0000344336" "0" "50" "X" "48458977" "48458977" "subst" "4.01832E-5" "02327" "WDR13_000029" "g.48458977G>C" "" "" "" "WDR13(NM_001166426.2):c.518G>C (p.C173S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48600589G>C" "" "VUS" "" "0000393935" "1" "50" "X" "48457208" "48457208" "subst" "0" "00124" "WDR13_000035" "g.48457208G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.48598820G>C" "" "VUS" "" "0000576233" "0" "50" "X" "48458737" "48458737" "subst" "0" "01943" "WDR13_000037" "g.48458737G>A" "" "" "" "WDR13(NM_001166426.2):c.278G>A (p.R93Q), WDR13(NM_001166426.3):c.278G>A (p.R93Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48600349G>A" "" "VUS" "" "0000576234" "0" "30" "X" "48460322" "48460322" "subst" "0.000657074" "01804" "WDR13_000033" "g.48460322G>A" "" "" "" "WDR13(NM_001166426.1):c.706G>A (p.(Val236Ile)), WDR13(NM_001166426.2):c.706G>A (p.V236I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48601934G>A" "" "likely benign" "" "0000576235" "0" "30" "X" "48462774" "48462774" "subst" "0" "02325" "WDR13_000038" "g.48462774C>T" "" "" "" "WDR13(NM_001166426.3):c.993C>T (p.C331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48604386C>T" "" "likely benign" "" "0000624634" "0" "50" "X" "48457218" "48457218" "subst" "0" "01943" "WDR13_000039" "g.48457218G>A" "" "" "" "WDR13(NM_001347217.2):c.155G>A (p.R52Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48598830G>A" "" "VUS" "" "0000624635" "0" "30" "X" "48458867" "48458867" "subst" "5.60658E-6" "01943" "WDR13_000041" "g.48458867C>G" "" "" "" "WDR13(NM_001347217.2):c.684C>G (p.S228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48600479C>G" "" "likely benign" "" "0000728964" "0" "50" "X" "48457344" "48457346" "del" "0" "02329" "WDR13_000036" "g.48457344_48457346del" "" "" "" "WDR13(NM_001166426.3):c.4_6delGAG (p.E2del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728965" "0" "50" "X" "48458064" "48458064" "subst" "0" "02329" "WDR13_000040" "g.48458064C>T" "" "" "" "WDR13(NM_001166426.3):c.206C>T (p.A69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810446" "0" "50" "X" "48458977" "48458977" "subst" "4.01832E-5" "01943" "WDR13_000029" "g.48458977G>C" "" "" "" "WDR13(NM_001166426.2):c.518G>C (p.C173S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810447" "0" "30" "X" "48462759" "48462759" "subst" "5.77137E-6" "01943" "WDR13_000042" "g.48462759C>T" "" "" "" "WDR13(NM_001347217.2):c.1254C>T (p.F418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817759" "3" "50" "X" "48457820" "48457820" "subst" "1.72753E-5" "00006" "WDR13_000043" "g.48457820C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.48599432C>T" "" "VUS" "ACMG" "0000856645" "0" "30" "X" "48457781" "48457781" "subst" "0.0001696" "01943" "WDR13_000044" "g.48457781A>G" "" "" "" "WDR13(NM_001347217.2):c.323A>G (p.H108R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856646" "0" "50" "X" "48458718" "48458718" "subst" "1.25625E-5" "02325" "WDR13_000045" "g.48458718C>T" "" "" "" "WDR13(NM_001166426.3):c.259C>T (p.R87C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867406" "0" "30" "X" "48462708" "48462708" "subst" "0.000261509" "01943" "WDR13_000046" "g.48462708C>T" "" "" "" "WDR13(NM_001347217.2):c.1203C>T (p.I401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896257" "0" "50" "X" "48458737" "48458737" "subst" "0" "02325" "WDR13_000037" "g.48458737G>A" "" "" "" "WDR13(NM_001166426.2):c.278G>A (p.R93Q), WDR13(NM_001166426.3):c.278G>A (p.R93Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896258" "0" "50" "X" "48458931" "48458931" "subst" "0" "02325" "WDR13_000028" "g.48458931C>T" "" "" "" "WDR13(NM_001166426.2):c.472C>T (p.R158C), WDR13(NM_001166426.3):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931423" "0" "50" "X" "48457202" "48457202" "subst" "0" "02325" "WDR13_000047" "g.48457202C>T" "" "" "" "WDR13(NM_001166426.3):c.-138C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044358" "0" "50" "X" "48458093" "48458093" "subst" "5.61596E-6" "01804" "WDR13_000049" "g.48458093G>A" "" "" "" "WDR13(NM_001347217.2):c.511G>A (p.(Val171Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044359" "0" "30" "X" "48462653" "48462653" "dup" "0" "01804" "WDR13_000050" "g.48462653dup" "" "" "" "WDR13(NM_001347217.2):c.1155-7dup" "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 WDR13 ## Count = 95 "{{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}}" "0000002950" "00000668" "50" "-306" "0" "-306" "0" "c.-306del" "r.(?)" "p.(=)" "" "0000002950" "00023974" "00" "42" "-71" "42" "-71" "c.42-71del" "r.(=)" "p.(=)" "" "0000006808" "00000668" "50" "-1117" "0" "-1117" "0" "c.-1117G>T" "" "p.?" "" "0000006808" "00023974" "00" "-162" "0" "-162" "0" "c.-162G>T" "r.(=)" "p.(=)" "" "0000006809" "00000668" "50" "555" "88" "555" "88" "c.555+88C>G" "r.(=)" "p.(=)" "" "0000006809" "00023974" "00" "831" "88" "831" "88" "c.831+88C>G" "r.(=)" "p.(=)" "" "0000006810" "00000668" "50" "556" "-210" "556" "-210" "c.556-210G>A" "r.(=)" "p.(=)" "" "0000006810" "00023974" "00" "832" "-210" "832" "-210" "c.832-210G>A" "r.(=)" "p.(=)" "" "0000006811" "00000668" "50" "698" "0" "698" "0" "c.698A>G" "" "p.(His233Arg)" "" "0000006811" "00023974" "00" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(His325Arg)" "" "0000006812" "00000668" "50" "878" "31" "878" "31" "c.878+31G>C" "r.(=)" "p.(=)" "" "0000006812" "00023974" "00" "1154" "31" "1154" "31" "c.1154+31G>C" "r.(=)" "p.(=)" "" "0000006813" "00000668" "50" "878" "187" "878" "187" "c.878+187G>A" "r.(=)" "p.(=)" "" "0000006813" "00023974" "00" "1154" "187" "1154" "187" "c.1154+187G>A" "r.(=)" "p.(=)" "" "0000006814" "00000668" "50" "878" "300" "878" "300" "c.878+300A>G" "r.(=)" "p.(=)" "" "0000006814" "00023974" "00" "1154" "300" "1154" "300" "c.1154+300A>G" "r.(=)" "p.(=)" "" "0000006815" "00000668" "50" "997" "194" "997" "194" "c.997+194C>T" "r.(=)" "p.(=)" "" "0000006815" "00023974" "00" "1273" "194" "1273" "194" "c.1273+194C>T" "r.(=)" "p.(=)" "" "0000008887" "00000668" "50" "-1117" "0" "-1117" "0" "c.-1117G>T" "" "p.?" "" "0000008887" "00023974" "00" "-162" "0" "-162" "0" "c.-162G>T" "r.(=)" "p.(=)" "" "0000008888" "00000668" "50" "555" "88" "555" "88" "c.555+88C>G" "r.(=)" "p.(=)" "" "0000008888" "00023974" "00" "831" "88" "831" "88" "c.831+88C>G" "r.(=)" "p.(=)" "" "0000008889" "00000668" "50" "556" "-210" "556" "-210" "c.556-210G>A" "r.(=)" "p.(=)" "" "0000008889" "00023974" "00" "832" "-210" "832" "-210" "c.832-210G>A" "r.(=)" "p.(=)" "" "0000008890" "00000668" "50" "698" "0" "698" "0" "c.698A>G" "" "p.(His233Arg)" "" "0000008890" "00023974" "00" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(His325Arg)" "" "0000008891" "00000668" "50" "878" "31" "878" "31" "c.878+31G>C" "r.(=)" "p.(=)" "" "0000008891" "00023974" "00" "1154" "31" "1154" "31" "c.1154+31G>C" "r.(=)" "p.(=)" "" "0000008892" "00000668" "50" "878" "187" "878" "187" "c.878+187G>A" "r.(=)" "p.(=)" "" "0000008892" "00023974" "00" "1154" "187" "1154" "187" "c.1154+187G>A" "r.(=)" "p.(=)" "" "0000008893" "00000668" "50" "997" "194" "997" "194" "c.997+194C>T" "r.(=)" "p.(=)" "" "0000008893" "00023974" "00" "1273" "194" "1273" "194" "c.1273+194C>T" "r.(=)" "p.(=)" "" "0000014782" "00000668" "50" "878" "300" "878" "300" "c.878+300A>G" "r.(=)" "p.(=)" "" "0000014782" "00023974" "00" "1154" "300" "1154" "300" "c.1154+300A>G" "r.(=)" "p.(=)" "" "0000046752" "00000668" "00" "556" "-90" "998" "-130" "c.556-90_998-130del" "r.?" "p.(Val186*)" "" "0000046752" "00023974" "70" "832" "-90" "1274" "-130" "c.832-90_1274-130del" "r.(?)" "p.(Val278*)" "5i_8i" "0000319798" "00000668" "30" "-55" "0" "-55" "0" "c.-55T>C" "r.(?)" "p.(=)" "" "0000319798" "00023974" "30" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(Ser74=)" "" "0000319799" "00000668" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000319799" "00023974" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Cys)" "" "0000319800" "00000668" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Lys202=)" "" "0000319800" "00023974" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(Lys294=)" "" "0000319801" "00000668" "50" "616" "0" "616" "0" "c.616G>T" "r.(?)" "p.(Gly206Trp)" "" "0000319801" "00023974" "50" "892" "0" "892" "0" "c.892G>T" "r.(?)" "p.(Gly298Trp)" "" "0000319802" "00000668" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Ala229Val)" "" "0000319802" "00023974" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "" "0000319803" "00000668" "30" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Val236Ile)" "" "0000319803" "00023974" "30" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Val328Ile)" "" "0000333993" "00000668" "50" "-199" "0" "-199" "0" "c.-199T>C" "r.(?)" "p.(=)" "" "0000333993" "00023974" "50" "78" "0" "78" "0" "c.78T>C" "r.(?)" "p.(Phe26=)" "" "0000333995" "00000668" "50" "616" "0" "616" "0" "c.616G>T" "r.(?)" "p.(Gly206Trp)" "" "0000333995" "00023974" "50" "892" "0" "892" "0" "c.892G>T" "r.(?)" "p.(Gly298Trp)" "" "0000341374" "00000668" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Ala229Val)" "" "0000341374" "00023974" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "" "0000342128" "00000668" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Ter)" "" "0000342128" "00023974" "70" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Ter)" "" "0000344336" "00000668" "50" "518" "0" "518" "0" "c.518G>C" "r.(?)" "p.(Cys173Ser)" "" "0000344336" "00023974" "50" "794" "0" "794" "0" "c.794G>C" "r.(?)" "p.(Cys265Ser)" "" "0000393935" "00000668" "00" "-132" "0" "-132" "0" "c.-132G>C" "r.(=)" "p.(=)" "" "0000393935" "00023974" "50" "145" "0" "145" "0" "c.145G>C" "r.(?)" "p.(Ala49Pro)" "" "0000576233" "00000668" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000576233" "00023974" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "0000576234" "00000668" "30" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Val236Ile)" "" "0000576234" "00023974" "30" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Val328Ile)" "" "0000576235" "00000668" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Cys331=)" "" "0000576235" "00023974" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Cys423=)" "" "0000624634" "00000668" "50" "-122" "0" "-122" "0" "c.-122G>A" "r.(?)" "p.(=)" "" "0000624634" "00023974" "50" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Arg52Gln)" "" "0000624635" "00000668" "30" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Ser136=)" "" "0000624635" "00023974" "30" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Ser228=)" "" "0000728964" "00000668" "50" "5" "0" "6" "1" "c.5_6+1del" "r.spl?" "p.?" "" "0000728964" "00023974" "50" "281" "0" "282" "1" "c.281_282+1del" "r.spl?" "p.?" "" "0000728965" "00000668" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ala69Val)" "" "0000728965" "00023974" "50" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Ala161Val)" "" "0000810446" "00000668" "50" "518" "0" "518" "0" "c.518G>C" "r.(?)" "p.(Cys173Ser)" "" "0000810446" "00023974" "50" "794" "0" "794" "0" "c.794G>C" "r.(?)" "p.(Cys265Ser)" "" "0000810447" "00000668" "30" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(Phe326=)" "" "0000810447" "00023974" "30" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(Phe418=)" "" "0000817759" "00000668" "50" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Ala29Val)" "" "0000856645" "00000668" "30" "47" "0" "47" "0" "c.47A>G" "r.(?)" "p.(His16Arg)" "" "0000856645" "00023974" "30" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(His108Arg)" "" "0000856646" "00000668" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000856646" "00023974" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000867406" "00000668" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ile309=)" "" "0000867406" "00023974" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(Ile401=)" "" "0000896257" "00000668" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000896257" "00023974" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "0000896258" "00000668" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000896258" "00023974" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Cys)" "" "0000931423" "00000668" "50" "-138" "0" "-138" "0" "c.-138C>T" "r.(?)" "p.(=)" "" "0000931423" "00023974" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0001044358" "00000668" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Val79Met)" "" "0001044358" "00023974" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Met)" "" "0001044359" "00000668" "30" "879" "-7" "879" "-7" "c.879-7dup" "r.(=)" "p.(=)" "" "0001044359" "00023974" "30" "1155" "-7" "1155" "-7" "c.1155-7dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002950" "0000000209" "0000006808" "0000000209" "0000006809" "0000000209" "0000006810" "0000000209" "0000006811" "0000000209" "0000006812" "0000000209" "0000006813" "0000000209" "0000006814" "0000000209" "0000006815" "0000000210" "0000008887" "0000000210" "0000008888" "0000000210" "0000008889" "0000000210" "0000008890" "0000000210" "0000008891" "0000000210" "0000008892" "0000000210" "0000008893" "0000000210" "0000014782" "0000024214" "0000046752" "0000173696" "0000393935" "0000388966" "0000817759"