### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR11) # 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}}" "WDR11" "WD repeat domain 11" "10" "q26" "unknown" "NG_023290.1" "UD_132119044184" "" "https://www.LOVD.nl/WDR11" "" "1" "13831" "55717" "606417" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/WDR11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-01 13:14:25" "00000" "2025-11-01 13:22:20" ## 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}}" "00022744" "WDR11" "WD repeat domain 11" "001" "NM_018117.11" "" "NP_060587.8" "" "" "" "-246" "4488" "3675" "122610687" "122669038" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01388" "HH7" "hypogonadism, hypogonadotropic, type 7 (HH7)" "AR" "146110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03754" "HH14" "hypogonadism, hypogonadotropic, type 14 with/without anosmia (HH14)" "AD" "614858" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-01 13:14:05" "05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WDR11" "01388" "WDR11" "03754" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00231286" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat229" "00231494" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat163" "00231495" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat164" "00231503" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat174" "00231557" "" "" "" "2" "" "00006" "{PMID:Eggers 2016:27899157}" "2-generation family, affected twins" "" "" "" "" "0" "" "" "" "Pat238" "00231558" "" "" "00231557" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "twin 239" "" "" "" "" "0" "" "" "" "Pat239" "00231565" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat88" "00434898" "" "" "" "1" "" "04451" "" "" "M" "no" "China" "" "" "" "" "East Asia" "20D2602998" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00231286" "05597" "00231494" "05597" "00231495" "05597" "00231503" "05597" "00231557" "05597" "00231558" "05597" "00231565" "05597" "00434898" "05198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01388, 03754, 05198, 05597 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000173724" "05597" "00231286" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, hypospadias" "" "" "" "no muscle available" "" "" "" "SRXY-6" "disorder of sex development" "0000173885" "05597" "00231494" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173886" "05597" "00231495" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173894" "05597" "00231503" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173948" "05597" "00231557" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173949" "05597" "00231558" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173956" "05597" "00231565" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000325144" "03754" "00434898" "04451" "Isolated (sporadic)" "27y" "Micropenis; anosmia; low nose bridge; hearing loss; mild cubitus valgus; metacarpal sign; testicular hypotrophy" "" "27y" "" "" "" "" "" "Kallmann syndrome" "Kallmann syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232385" "00231286" "1" "00006" "00006" "2019-04-28 15:14:10" "00006" "2019-04-28 15:53:06" "SEQ" "DNA" "" "" "0000232593" "00231494" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232594" "00231495" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232602" "00231503" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232656" "00231557" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232657" "00231558" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232664" "00231565" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000436371" "00434898" "1" "04451" "04451" "2023-04-12 03:39:50" "" "" "SEQ-NG" "DNA" "Peripheral venous blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000232385" "MAP3K1" "0000232385" "WDR11" "0000232593" "WDR11" "0000232594" "WDR11" "0000232602" "WDR11" "0000232656" "WDR11" "0000232657" "WDR11" "0000232664" "AR" "0000232664" "WDR11" "0000436371" "WDR11" ## 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 = 52 "{{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}}" "0000248625" "0" "10" "10" "122649482" "122649482" "subst" "0.200879" "02325" "WDR11_000001" "g.122649482A>G" "" "" "" "WDR11(NM_018117.12):c.2304A>G (p.A768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120889970A>G" "" "benign" "" "0000255967" "0" "50" "10" "122659623" "122659623" "subst" "0" "01943" "WDR11_000002" "g.122659623A>T" "" "" "" "WDR11(NM_018117.11):c.2598A>T (p.G866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120900111A>T" "" "VUS" "" "0000313054" "0" "10" "10" "122663585" "122663585" "subst" "0.66025" "02325" "WDR11_000003" "g.122663585G>A" "" "" "" "WDR11(NM_018117.12):c.2958G>A (p.L986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120904073G>A" "" "benign" "" "0000319797" "0" "30" "10" "122630812" "122630812" "subst" "0.00282644" "01943" "WDR11_000004" "g.122630812G>A" "" "" "" "WDR11(NM_018117.11):c.1425G>A (p.P475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120871300G>A" "" "likely benign" "" "0000474788" "0" "50" "10" "122650357" "122650357" "subst" "1.21827E-5" "00006" "WDR11_000005" "g.122650357A>G" "" "{PMID:Eggers 2016:27899157}" "" "A2473G" "" "Germline" "" "" "0" "" "" "g.120890845A>G" "" "VUS" "" "0000475092" "1" "50" "10" "122626666" "122626666" "subst" "0" "00006" "WDR11_000007" "g.122626666T>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.120867154T>A" "" "VUS" "" "0000475093" "1" "50" "10" "122630739" "122630739" "subst" "8.93365E-5" "00006" "WDR11_000008" "g.122630739A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.120871227A>G" "" "VUS" "" "0000475094" "1" "50" "10" "122650293" "122650293" "subst" "0" "00006" "WDR11_000009" "g.122650293G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.120890781G>T" "" "VUS" "" "0000475095" "1" "50" "10" "122668157" "122668157" "subst" "4.06062E-6" "00006" "WDR11_000010" "g.122668157G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.120908645G>A" "" "VUS" "" "0000475096" "1" "50" "10" "122668157" "122668157" "subst" "4.06062E-6" "00006" "WDR11_000010" "g.122668157G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.120908645G>A" "" "VUS" "" "0000475097" "1" "50" "10" "122625161" "122625161" "subst" "2.44164E-5" "00006" "WDR11_000006" "g.122625161G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.120865649G>A" "" "VUS" "" "0000539379" "0" "50" "10" "122622393" "122622393" "subst" "0" "01804" "WDR11_000011" "g.122622393C>G" "" "" "" "WDR11(NM_018117.11):c.673C>G (p.(Leu225Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120862881C>G" "" "VUS" "" "0000539380" "0" "50" "10" "122643308" "122643308" "subst" "0" "02327" "WDR11_000012" "g.122643308G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120883796G>T" "" "VUS" "" "0000612343" "0" "50" "10" "122619783" "122619783" "subst" "0" "02327" "WDR11_000014" "g.122619783C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120860271C>A" "" "VUS" "" "0000612344" "0" "30" "10" "122630836" "122630836" "subst" "0.000320883" "01943" "WDR11_000015" "g.122630836G>C" "" "" "" "WDR11(NM_018117.11):c.1449G>C (p.M483I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120871324G>C" "" "likely benign" "" "0000656438" "0" "50" "10" "122624690" "122624690" "subst" "0" "01943" "WDR11_000016" "g.122624690T>C" "" "" "" "WDR11(NM_018117.11):c.845T>C (p.I282T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120865178T>C" "" "VUS" "" "0000678792" "0" "50" "10" "122622393" "122622393" "subst" "0" "02327" "WDR11_000011" "g.122622393C>G" "" "" "" "WDR11(NM_018117.11):c.673C>G (p.(Leu225Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678793" "0" "50" "10" "122664872" "122664872" "subst" "0" "02327" "WDR11_000017" "g.122664872G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722719" "0" "30" "10" "122662606" "122662606" "subst" "3.24958E-5" "01943" "WDR11_000018" "g.122662606C>T" "" "" "" "WDR11(NM_018117.11):c.2793C>T (p.V931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722720" "0" "50" "10" "122663559" "122663559" "subst" "0.000175803" "01943" "WDR11_000019" "g.122663559A>C" "" "" "" "WDR11(NM_018117.11):c.2932A>C (p.K978Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722721" "0" "50" "10" "122663599" "122663599" "subst" "2.44037E-5" "02327" "WDR11_000020" "g.122663599G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804325" "0" "50" "10" "122649483" "122649483" "subst" "0.000568874" "02327" "WDR11_000021" "g.122649483A>G" "" "" "" "WDR11(NM_018117.11):c.2305A>G (p.(Met769Val)), WDR11(NM_018117.12):c.2305A>G (p.M769V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804326" "0" "50" "10" "122664863" "122664863" "subst" "0" "02327" "WDR11_000022" "g.122664863G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804327" "0" "50" "10" "122666336" "122666336" "subst" "4.06138E-6" "01943" "WDR11_000023" "g.122666336G>C" "" "" "" "WDR11(NM_018117.11):c.3486G>C (p.K1162N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852427" "0" "30" "10" "122626152" "122626152" "subst" "0.0016122" "01943" "WDR11_000024" "g.122626152G>A" "" "" "" "WDR11(NM_018117.11):c.1066G>A (p.V356I), WDR11(NM_018117.12):c.1066G>A (p.V356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852428" "0" "50" "10" "122663598" "122663598" "subst" "0" "02327" "WDR11_000026" "g.122663598C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861844" "0" "50" "10" "122646350" "122646350" "subst" "4.06693E-6" "02327" "WDR11_000025" "g.122646350T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889048" "0" "30" "10" "122626152" "122626152" "subst" "0.0016122" "02326" "WDR11_000024" "g.122626152G>A" "" "" "" "WDR11(NM_018117.11):c.1066G>A (p.V356I), WDR11(NM_018117.12):c.1066G>A (p.V356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889049" "0" "90" "10" "122630690" "122630690" "subst" "0.000170565" "02327" "WDR11_000027" "g.122630690G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913238" "0" "30" "10" "122626152" "122626152" "subst" "0.0016122" "02325" "WDR11_000024" "g.122626152G>A" "" "" "" "WDR11(NM_018117.11):c.1066G>A (p.V356I), WDR11(NM_018117.12):c.1066G>A (p.V356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913239" "0" "30" "10" "122630757" "122630757" "subst" "2.84264E-5" "02325" "WDR11_000028" "g.122630757C>T" "" "" "" "WDR11(NM_018117.12):c.1370C>T (p.(Thr457Met), p.T457M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913240" "0" "30" "10" "122661764" "122661764" "subst" "0.000865509" "02325" "WDR11_000029" "g.122661764C>G" "" "" "" "WDR11(NM_018117.12):c.2688-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922743" "0" "50" "10" "122662750" "122662750" "del" "0" "04451" "WDR11_000030" "g.122662750del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.120903238del" "" "VUS" "ACMG" "0000925126" "0" "50" "10" "122612051" "122612051" "subst" "0" "02325" "WDR11_000031" "g.122612051A>T" "" "" "" "WDR11(NM_018117.12):c.102A>T (p.L34F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929648" "0" "50" "10" "122619674" "122619674" "subst" "4.06075E-6" "02325" "WDR11_000032" "g.122619674C>T" "" "" "" "WDR11(NM_018117.12):c.406C>T (p.H136Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929649" "0" "50" "10" "122649483" "122649483" "subst" "0.000568874" "02325" "WDR11_000021" "g.122649483A>G" "" "" "" "WDR11(NM_018117.11):c.2305A>G (p.(Met769Val)), WDR11(NM_018117.12):c.2305A>G (p.M769V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965625" "0" "30" "10" "122663629" "122663629" "subst" "0.000105687" "02325" "WDR11_000033" "g.122663629C>T" "" "" "" "WDR11(NM_018117.12):c.3002C>T (p.(Thr1001Ile), p.T1001I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978924" "0" "30" "10" "122622257" "122622257" "subst" "0.000828453" "01804" "WDR11_000034" "g.122622257C>T" "" "" "" "WDR11(NM_018117.12):c.537C>T (p.(Ser179=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978925" "0" "50" "10" "122630757" "122630757" "subst" "2.84264E-5" "01804" "WDR11_000028" "g.122630757C>T" "" "" "" "WDR11(NM_018117.12):c.1370C>T (p.(Thr457Met), p.T457M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978926" "0" "50" "10" "122666298" "122666298" "subst" "0" "01804" "WDR11_000035" "g.122666298T>G" "" "" "" "WDR11(NM_018117.12):c.3448T>G (p.(Phe1150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998158" "0" "30" "10" "122618302" "122618302" "subst" "1.62446E-5" "01804" "WDR11_000036" "g.122618302A>G" "" "" "" "WDR11(NM_018117.11):c.346A>G (p.(Ile116Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998159" "0" "50" "10" "122624636" "122624636" "subst" "2.03102E-5" "01804" "WDR11_000037" "g.122624636A>G" "" "" "" "WDR11(NM_018117.11):c.791A>G (p.(Tyr264Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998160" "0" "50" "10" "122637900" "122637900" "subst" "4.06593E-5" "01804" "WDR11_000038" "g.122637900C>G" "" "" "" "WDR11(NM_018117.11):c.1592C>G (p.(Ser531Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998161" "0" "50" "10" "122649483" "122649483" "subst" "0.000568874" "01804" "WDR11_000021" "g.122649483A>G" "" "" "" "WDR11(NM_018117.11):c.2305A>G (p.(Met769Val)), WDR11(NM_018117.12):c.2305A>G (p.M769V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998162" "0" "50" "10" "122665446" "122665446" "subst" "0" "01804" "WDR11_000039" "g.122665446G>C" "" "" "" "WDR11(NM_018117.11):c.3350G>C (p.(Cys1117Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998163" "0" "50" "10" "122666300" "122666300" "subst" "0.000706697" "01804" "WDR11_000040" "g.122666300T>G" "" "" "" "WDR11(NM_018117.11):c.3450T>G (p.(Phe1150Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014598" "0" "70" "10" "122624669" "122624669" "del" "0" "02329" "WDR11_000041" "g.122624669del" "" "" "" "WDR11(NM_018117.12):c.824delT (p.V275Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025723" "0" "50" "10" "122625525" "122625525" "subst" "0" "02329" "WDR11_000042" "g.122625525A>T" "" "" "" "WDR11(NM_018117.12):c.994+269A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037756" "0" "50" "10" "122626116" "122626116" "subst" "0" "01804" "WDR11_000043" "g.122626116C>T" "" "" "" "WDR11(NM_018117.12):c.1030C>T (p.(Arg344*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037757" "0" "30" "10" "122663629" "122663629" "subst" "0.000105687" "01804" "WDR11_000033" "g.122663629C>T" "" "" "" "WDR11(NM_018117.12):c.3002C>T (p.(Thr1001Ile), p.T1001I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037758" "0" "50" "10" "122663638" "122663638" "subst" "8.13015E-6" "01804" "WDR11_000044" "g.122663638T>A" "" "" "" "WDR11(NM_018117.12):c.3011T>A (p.(Leu1004Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053720" "0" "50" "10" "122630690" "122630690" "subst" "1.21832E-5" "01804" "WDR11_000045" "g.122630690G>C" "" "" "" "WDR11(NM_018117.12):c.1303G>C (p.(Ala435Pro))" "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 WDR11 ## Count = 52 "{{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}}" "0000248625" "00022744" "10" "2304" "0" "2304" "0" "c.2304A>G" "r.(?)" "p.(Ala768=)" "" "0000255967" "00022744" "50" "2598" "0" "2598" "0" "c.2598A>T" "r.(?)" "p.(Gly866=)" "" "0000313054" "00022744" "10" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(Leu986=)" "" "0000319797" "00022744" "30" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Pro475=)" "" "0000474788" "00022744" "50" "2473" "0" "2473" "0" "c.2473A>G" "r.(?)" "p.(Met825Val)" "" "0000475092" "00022744" "50" "1279" "0" "1279" "0" "c.1279T>A" "r.(?)" "p.(Leu427Ile)" "" "0000475093" "00022744" "50" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(His451Arg)" "" "0000475094" "00022744" "50" "2409" "0" "2409" "0" "c.2409G>T" "r.(?)" "p.(Trp803Cys)" "" "0000475095" "00022744" "50" "3607" "0" "3607" "0" "c.3607G>A" "r.(?)" "p.(Ala1203Thr)" "" "0000475096" "00022744" "50" "3607" "0" "3607" "0" "c.3607G>A" "r.(?)" "p.(Ala1203Thr)" "" "0000475097" "00022744" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000539379" "00022744" "50" "673" "0" "673" "0" "c.673C>G" "r.(?)" "p.(Leu225Val)" "" "0000539380" "00022744" "50" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Val586Leu)" "" "0000612343" "00022744" "50" "515" "0" "515" "0" "c.515C>A" "r.(?)" "p.(Ser172Ter)" "" "0000612344" "00022744" "30" "1449" "0" "1449" "0" "c.1449G>C" "r.(?)" "p.(Met483Ile)" "" "0000656438" "00022744" "50" "845" "0" "845" "0" "c.845T>C" "r.(?)" "p.(Ile282Thr)" "" "0000678792" "00022744" "50" "673" "0" "673" "0" "c.673C>G" "r.(?)" "p.(Leu225Val)" "" "0000678793" "00022744" "50" "3235" "0" "3235" "0" "c.3235G>A" "r.(?)" "p.(Ala1079Thr)" "" "0000722719" "00022744" "30" "2793" "0" "2793" "0" "c.2793C>T" "r.(?)" "p.(Val931=)" "" "0000722720" "00022744" "50" "2932" "0" "2932" "0" "c.2932A>C" "r.(?)" "p.(Lys978Gln)" "" "0000722721" "00022744" "50" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991Gln)" "" "0000804325" "00022744" "50" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000804326" "00022744" "50" "3226" "0" "3226" "0" "c.3226G>T" "r.(?)" "p.(Ala1076Ser)" "" "0000804327" "00022744" "50" "3486" "0" "3486" "0" "c.3486G>C" "r.(?)" "p.(Lys1162Asn)" "" "0000852427" "00022744" "30" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Ile)" "" "0000852428" "00022744" "50" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991Trp)" "" "0000861844" "00022744" "50" "2121" "2" "2121" "2" "c.2121+2T>G" "r.spl?" "p.?" "" "0000889048" "00022744" "30" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Ile)" "" "0000889049" "00022744" "90" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Ala435Thr)" "" "0000913238" "00022744" "30" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Ile)" "" "0000913239" "00022744" "30" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Thr457Met)" "" "0000913240" "00022744" "30" "2688" "-5" "2688" "-5" "c.2688-5C>G" "r.spl?" "p.?" "" "0000922743" "00022744" "50" "2931" "6" "2931" "6" "c.2931+6del" "r.spl?" "p.(=)" "" "0000925126" "00022744" "50" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Leu34Phe)" "" "0000929648" "00022744" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(His136Tyr)" "" "0000929649" "00022744" "50" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000965625" "00022744" "30" "3002" "0" "3002" "0" "c.3002C>T" "r.(?)" "p.(Thr1001Ile)" "" "0000978924" "00022744" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(=)" "" "0000978925" "00022744" "50" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Thr457Met)" "" "0000978926" "00022744" "50" "3448" "0" "3448" "0" "c.3448T>G" "r.(?)" "p.(Phe1150Val)" "" "0000998158" "00022744" "30" "346" "0" "346" "0" "c.346A>G" "r.(?)" "p.(Ile116Val)" "" "0000998159" "00022744" "50" "791" "0" "791" "0" "c.791A>G" "r.(?)" "p.(Tyr264Cys)" "" "0000998160" "00022744" "50" "1592" "0" "1592" "0" "c.1592C>G" "r.(?)" "p.(Ser531Cys)" "" "0000998161" "00022744" "50" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000998162" "00022744" "50" "3350" "0" "3350" "0" "c.3350G>C" "r.(?)" "p.(Cys1117Ser)" "" "0000998163" "00022744" "50" "3450" "0" "3450" "0" "c.3450T>G" "r.(?)" "p.(Phe1150Leu)" "" "0001014598" "00022744" "70" "824" "0" "824" "0" "c.824del" "r.(?)" "p.(Val275Glyfs*7)" "" "0001025723" "00022744" "50" "994" "269" "994" "269" "c.994+269A>T" "r.(=)" "p.(=)" "" "0001037756" "00022744" "50" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "0001037757" "00022744" "30" "3002" "0" "3002" "0" "c.3002C>T" "r.(?)" "p.(Thr1001Ile)" "" "0001037758" "00022744" "50" "3011" "0" "3011" "0" "c.3011T>A" "r.(?)" "p.(Leu1004Gln)" "" "0001053720" "00022744" "50" "1303" "0" "1303" "0" "c.1303G>C" "r.(?)" "p.(Ala435Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000232385" "0000474788" "0000232593" "0000475092" "0000232594" "0000475093" "0000232602" "0000475094" "0000232656" "0000475095" "0000232657" "0000475096" "0000232664" "0000475097" "0000436371" "0000922743"