### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR73) # 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}}" "WDR73" "WD repeat domain 73" "15" "q25.2" "unknown" "NC_000015.9" "UD_136021743948" "" "http://www.LOVD.nl/WDR73" "" "1" "25928" "84942" "616144" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/WDR73_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-16 08:38:41" "00000" "2025-07-08 13:22:38" ## 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}}" "00022788" "WDR73" "WD repeat domain 73" "001" "NM_032856.2" "" "NP_116245.2" "" "" "" "-16" "1839" "1137" "85197521" "85185999" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04283" "GAMOS1" "Galloway-Mowat syndrome (GAMOS)" "AR" "251300" "" "" "" "00006" "2015-06-16 08:38:15" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "WDR73" "04283" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00039413" "" "" "" "1" "" "01331" "WDR73" "" "F" "yes" "Austria" "" "0" "" "" "Austria" "" "00039414" "" "" "" "5" "" "01331" "WDR73" "" "M" "yes" "Lebanon" "" "0" "" "" "Lebanon" "" "00039415" "" "" "" "1" "" "01331" "WDR73" "" "F" "yes" "India" "" "0" "" "" "India" "" "00039416" "" "" "" "1" "" "01331" "WDR73" "" "F" "yes" "Turkey" "" "0" "" "" "Turkey" "" "00039417" "" "" "" "1" "" "01331" "WDR73" "" "F" "yes" "Somalia" "" "0" "" "" "Somalia" "" "00043751" "" "" "" "2" "" "00006" "{PMID:Colin 2014:25466283}, {DOI:Colin 2014:10.1016/j.ajhg.2014.10.011}" "2-generation family, 2 affected males, unaffected heterozygous carrier parents" "M" "no" "Morocco" "" "0" "" "" "" "" "00043752" "" "" "" "1" "" "00006" "{PMID:Colin 2014:25466283}, {DOI:Colin 2014:10.1016/j.ajhg.2014.10.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00183062" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio59" "00318009" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR242" "00399294" "" "" "" "1" "" "01164" "" "" "F" "yes" "Syria" "" "0" "" "" "" "166720" "00415258" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00039413" "00198" "00039414" "04283" "00039415" "00198" "00039416" "00198" "00039417" "00198" "00043751" "04283" "00043752" "04283" "00183062" "00139" "00318009" "00139" "00399294" "04283" "00415258" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214, 04283 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000034014" "04283" "00043751" "00006" "Isolated (sporadic)" "" "see paper; secondary microcephaly, severe neurological impairment, nephrotic syndrome (one), peripheral hypertonia,\r\naxial hypotonia (at 4m),\r\nnystagmus (one), epileptic spasms, ID; brain MRI cerebellar atrophy, thin corpus callosum (one), subtentorial atrophy (one); facial dysmorphy, optic atrophy, ..." "" "" "" "" "" "" "" "" "" "" "" "0000034015" "04283" "00043752" "00006" "Isolated (sporadic)" "" "see paper; focal segmental glomerulosclerosis, podocyte hypertrophy, no end-stage kidney disease; head circumference (5m -2 SD, 10y -3 SDs), hypertonia, ID, spasticity, cerebellar atrophy, thin corpus callosum, subtentorial atrophy, ventricular dilation, facial dysmorphy, abnormal visual\r\nevoked potentials, optic atrophy, ..." "" "" "" "" "" "" "" "" "" "" "" "0000041565" "04283" "00039414" "01331" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143815" "00139" "00183062" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000241793" "00139" "00318009" "00006" "Familial, autosomal recessive" "" "Mild to moderate ID, microcephaly, Dental anomalies, Weak limbs, defects in all affected, Besides these featuresIV:3 has defects in vertebral column and disordered walk. In addition to above features IV:4 has weak limbs" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000292411" "04283" "00399294" "01164" "Familial, autosomal recessive" "03y" "Global developmental delay, Profound global developmental delay, Short stature, Microcephaly, Spasticity, Nystagmus, Horizontal pendular nystagmus, Cerebellar atrophy, Abnormality of the basal ganglia, Abnormality of extrapyramidal motor function" "" "" "" "" "" "" "" "" "" "" "" "0000307056" "04214" "00415258" "00000" "Familial, autosomal recessive" "" "OMIM: 251300; developmental delay, delayed myelination of the white matter, and poor vision" "" "" "" "" "" "" "" "" "Galloway-Mowat syndrome" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039655" "00039413" "1" "01331" "01331" "2015-06-15 17:27:17" "" "" "SEQ;SEQ-NG-I" "DNA" "leucocyte" "" "0000039656" "00039414" "1" "01331" "01331" "2015-06-15 18:03:23" "00006" "2015-06-16 19:43:55" "SEQ" "DNA" "leucocyte" "" "0000039657" "00039415" "1" "01331" "01331" "2015-06-15 18:13:31" "" "" "SEQ" "DNA" "leucocyte" "" "0000039658" "00039416" "1" "01331" "01331" "2015-06-15 18:17:13" "" "" "SEQ" "DNA" "leucocyte" "" "0000039659" "00039417" "1" "01331" "01331" "2015-06-15 18:23:02" "" "" "SEQ" "DNA" "" "" "0000043993" "00043751" "1" "00006" "00006" "2015-06-16 17:24:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000043994" "00043752" "1" "00006" "00006" "2015-06-16 19:25:23" "" "" "SEQ" "DNA" "" "" "0000184022" "00183062" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000319191" "00318009" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400537" "00399294" "1" "01164" "01164" "2022-01-19 11:04:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000416540" "00415258" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000039655" "WDR73" "0000039656" "WDR73" "0000039656" "ZNF592" "0000039657" "WDR73" "0000039658" "WDR73" "0000039659" "WDR73" "0000043993" "WDR73" "0000043994" "WDR73" "0000319191" "WDR73" "0000400537" "WDR73" "0000416540" "WDR73" ## 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}}" "0000067287" "3" "70" "15" "85189534" "85189535" "del" "0" "01331" "WDR73_000002" "g.85189534_85189535del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.84646303_84646304del" "" "likely pathogenic" "" "0000067288" "3" "70" "15" "85186799" "85186799" "subst" "4.12184E-6" "01331" "WDR73_000003" "g.85186799G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.84643568G>A" "" "likely pathogenic" "" "0000067289" "3" "70" "15" "85191768" "85191768" "subst" "0" "01331" "WDR73_000004" "g.85191768C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.84648537C>T" "" "likely pathogenic" "" "0000067290" "3" "70" "15" "85186898" "85186898" "subst" "0" "01331" "WDR73_000001" "g.85186898G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.84643667G>A" "" "likely pathogenic" "" "0000067291" "3" "70" "15" "85196904" "85196904" "subst" "0" "01331" "WDR73_000005" "g.85196904A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.84653673A>T" "" "likely pathogenic" "" "0000071778" "3" "90" "15" "85196014" "85196014" "subst" "0" "00006" "WDR73_000006" "g.85196014A>C" "" "{PMID:Colin 2014:25466283}, {DOI:Colin 2014:10.1016/j.ajhg.2014.10.011}, {OMIM616144:0001}" "" "" "" "Germline" "yes" "rs727502863" "0" "" "" "g.84652783A>C" "" "pathogenic" "" "0000071779" "3" "90" "15" "85188823" "85188823" "dup" "0" "00006" "WDR73_000007" "g.85188823dup" "1/30 cases" "{PMID:Colin 2014:25466283}, {DOI:Colin 2014:10.1016/j.ajhg.2014.10.011}, {OMIM616144:0002}" "" "" "" "Germline" "yes" "rs727502864" "0" "" "" "g.84645592dup" "" "pathogenic" "" "0000256231" "0" "50" "15" "85196904" "85196904" "subst" "0" "01943" "WDR73_000005" "g.85196904A>T" "" "" "" "WDR73(NM_032856.3):c.68T>A (p.L23Q), WDR73(NM_032856.5):c.68T>A (p.L23Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84653673A>T" "" "VUS" "" "0000313074" "0" "50" "15" "85186711" "85186711" "del" "0" "02325" "WDR73_000008" "g.85186711del" "" "" "" "WDR73(NM_032856.2):c.1132del (p.(Arg378AlafsTer25)), WDR73(NM_032856.3):c.1132delC (p.R378Afs*25), WDR73(NM_032856.5):c.1132delC (p.R378Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84643480del" "" "VUS" "" "0000319902" "0" "30" "15" "85186803" "85186803" "subst" "0" "01943" "WDR73_000009" "g.85186803G>A" "" "" "" "WDR73(NM_032856.3):c.1035C>T (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84643572G>A" "" "likely benign" "" "0000319903" "0" "10" "15" "85189511" "85189511" "subst" "0.00137433" "01943" "WDR73_000010" "g.85189511C>T" "" "" "" "WDR73(NM_032856.3):c.421G>A (p.V141I), WDR73(NM_032856.4):c.421G>A (p.V141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84646280C>T" "" "benign" "" "0000340490" "0" "10" "15" "85188775" "85188775" "subst" "0.0307127" "02327" "WDR73_000013" "g.85188775G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84645544G>A" "" "benign" "" "0000340491" "0" "10" "15" "85188994" "85188994" "subst" "0.856963" "02327" "WDR73_000014" "g.85188994T>C" "" "" "" "WDR73(NM_032856.3):c.591A>G (p.S197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84645763T>C" "" "benign" "" "0000343524" "0" "70" "15" "85191768" "85191768" "subst" "0" "02327" "WDR73_000004" "g.85191768C>T" "" "" "" "WDR73(NM_032856.5):c.287G>A (p.(Arg96Lys), p.R96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84648537C>T" "" "likely pathogenic" "" "0000351387" "0" "10" "15" "85186637" "85186637" "subst" "0" "02327" "WDR73_000011" "g.85186637G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84643406G>C" "" "benign" "" "0000407990" "0" "50" "15" "85188733" "85188733" "subst" "0" "00006" "WDR73_000015" "g.85188733G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_032856.2:c.852C>T (=)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.84645502G>A" "" "VUS" "" "0000555646" "0" "50" "15" "85186711" "85186711" "del" "0" "01943" "WDR73_000008" "g.85186711del" "" "" "" "WDR73(NM_032856.2):c.1132del (p.(Arg378AlafsTer25)), WDR73(NM_032856.3):c.1132delC (p.R378Afs*25), WDR73(NM_032856.5):c.1132delC (p.R378Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84643480del" "" "VUS" "" "0000555647" "0" "50" "15" "85186711" "85186711" "del" "0" "01804" "WDR73_000008" "g.85186711del" "" "" "" "WDR73(NM_032856.2):c.1132del (p.(Arg378AlafsTer25)), WDR73(NM_032856.3):c.1132delC (p.R378Afs*25), WDR73(NM_032856.5):c.1132delC (p.R378Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84643480del" "" "VUS" "" "0000555648" "0" "30" "15" "85186712" "85186712" "subst" "0.000238176" "01943" "WDR73_000016" "g.85186712C>A" "" "" "" "WDR73(NM_032856.3):c.1126G>T (p.A376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84643481C>A" "" "likely benign" "" "0000555649" "0" "10" "15" "85186896" "85186913" "del" "0" "01943" "WDR73_000012" "g.85186896_85186913del" "" "" "" "WDR73(NM_032856.3):c.944_961delATGGAACACGGAGCCAAG (p.D315_Q320del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84643665_84643682del" "" "benign" "" "0000555650" "0" "30" "15" "85188694" "85188694" "subst" "0.00101506" "01943" "WDR73_000017" "g.85188694G>A" "" "" "" "WDR73(NM_032856.3):c.883+8C>T, WDR73(NM_032856.4):c.883+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84645463G>A" "" "likely benign" "" "0000555651" "0" "70" "15" "85188818" "85188818" "subst" "0" "02327" "WDR73_000018" "g.85188818C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84645587C>T" "" "likely pathogenic" "" "0000555652" "0" "10" "15" "85188994" "85188994" "subst" "0.856963" "01943" "WDR73_000014" "g.85188994T>C" "" "" "" "WDR73(NM_032856.3):c.591A>G (p.S197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84645763T>C" "" "benign" "" "0000555653" "0" "70" "15" "85196904" "85196904" "subst" "0" "02329" "WDR73_000005" "g.85196904A>T" "" "" "" "WDR73(NM_032856.3):c.68T>A (p.L23Q), WDR73(NM_032856.5):c.68T>A (p.L23Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84653673A>T" "" "likely pathogenic" "" "0000615561" "0" "30" "15" "85186836" "85186836" "subst" "4.09625E-5" "01943" "WDR73_000019" "g.85186836A>G" "" "" "" "WDR73(NM_032856.3):c.1002T>C (p.D334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84643605A>G" "" "likely benign" "" "0000623311" "0" "30" "15" "85197473" "85197473" "subst" "8.53048E-5" "01943" "NMB_000001" "g.85197473G>A" "" "" "" "WDR73(NM_032856.3):c.33C>T (p.S11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84654242G>A" "" "likely benign" "" "0000657675" "0" "90" "15" "85189053" "85189056" "del" "0" "02327" "WDR73_000020" "g.85189053_85189056del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84645822_84645825del" "" "pathogenic" "" "0000680309" "0" "50" "15" "85186827" "85186827" "subst" "0.000340125" "01943" "WDR73_000021" "g.85186827C>A" "" "" "" "WDR73(NM_032856.3):c.1011G>T (p.G337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701855" "3" "70" "15" "85186864" "85186864" "subst" "0" "00006" "WDR73_000022" "g.85186864A>G" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.84643633A>G" "" "likely pathogenic (recessive)" "" "0000725325" "0" "30" "15" "85186957" "85186957" "subst" "5.79485E-5" "02325" "WDR73_000023" "g.85186957G>A" "" "" "" "WDR73(NM_032856.5):c.884-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806952" "0" "10" "15" "85188839" "85188839" "subst" "0.104207" "02327" "WDR73_000024" "g.85188839C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000833453" "3" "70" "15" "85188818" "85188818" "subst" "0" "01164" "WDR73_000018" "g.85188818C>T" "" "PMID: 30315938; LOVD Variant #0000555651" "" "" "ACMG: PS4, PM2_SUP, PM3_SUP, PP3" "Germline" "?" "" "" "" "" "" "VCV000635182.1" "likely pathogenic (recessive)" "ACMG" "0000854208" "0" "30" "15" "85188900" "85188900" "subst" "8.55696E-6" "01943" "WDR73_000025" "g.85188900C>G" "" "" "" "WDR73(NM_032856.3):c.685G>C (p.E229Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854209" "0" "10" "15" "85189595" "85189595" "subst" "0.00215334" "02326" "WDR73_000026" "g.85189595G>C" "" "" "" "WDR73(NM_032856.4):c.353-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863982" "0" "10" "15" "85191826" "85191826" "subst" "0.000974976" "02326" "WDR73_000027" "g.85191826G>A" "" "" "" "WDR73(NM_032856.4):c.229C>T (p.R77C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000874668" "3" "70" "15" "85191768" "85191768" "subst" "0" "00000" "WDR73_000004" "g.85191768C>T" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "WDR73, NM_032856.3, c.287G>A, p.Arg96Lys" "homozygous" "Unknown" "?" "" "0" "" "" "g.84648537C>T" "" "likely pathogenic" "ACMG" "0000892305" "0" "30" "15" "85189452" "85189452" "subst" "0.000195251" "02326" "WDR73_000028" "g.85189452G>A" "" "" "" "WDR73(NM_032856.4):c.480C>T (p.V160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892306" "0" "30" "15" "85189511" "85189511" "subst" "0.00137433" "02326" "WDR73_000010" "g.85189511C>T" "" "" "" "WDR73(NM_032856.3):c.421G>A (p.V141I), WDR73(NM_032856.4):c.421G>A (p.V141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892307" "0" "90" "15" "85191139" "85191139" "subst" "1.21852E-5" "02327" "WDR73_000029" "g.85191139G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914377" "0" "10" "15" "85191137" "85191137" "subst" "0.00228273" "02326" "WDR73_000030" "g.85191137C>T" "" "" "" "WDR73(NM_032856.4):c.336G>A (p.Q112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914378" "0" "30" "15" "85197438" "85197448" "del" "0.00160926" "02326" "NMB_000002" "g.85197438_85197448del" "" "" "" "WDR73(NM_032856.4):c.41+17_41+27delTGGGACATGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914379" "0" "30" "15" "85197561" "85197561" "subst" "0" "02326" "NMB_000003" "g.85197561G>A" "" "" "" "WDR73(NR_130945.1):n.14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950448" "0" "30" "15" "85188694" "85188694" "subst" "0.00101506" "02326" "WDR73_000017" "g.85188694G>A" "" "" "" "WDR73(NM_032856.3):c.883+8C>T, WDR73(NM_032856.4):c.883+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001711" "0" "90" "15" "85191768" "85191768" "subst" "0" "02325" "WDR73_000004" "g.85191768C>T" "" "" "" "WDR73(NM_032856.5):c.287G>A (p.(Arg96Lys), p.R96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001712" "0" "50" "15" "85197498" "85197498" "subst" "6.09305E-5" "01804" "NMB_000004" "g.85197498G>A" "" "" "" "WDR73(NM_032856.2):c.8C>T (p.(Pro3Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040632" "0" "90" "15" "85188704" "85188704" "subst" "4.11221E-6" "02326" "WDR73_000031" "g.85188704G>C" "" "" "" "WDR73(NM_032856.4):c.881C>G (p.S294*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040633" "0" "90" "15" "85191768" "85191768" "subst" "0" "01804" "WDR73_000004" "g.85191768C>T" "" "" "" "WDR73(NM_032856.5):c.287G>A (p.(Arg96Lys), p.R96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046506" "0" "30" "15" "85186711" "85186711" "dup" "0" "02326" "WDR73_000032" "g.85186711dup" "" "" "" "WDR73(NM_032856.4):c.1132dupC (p.R378Pfs*12)" "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 WDR73 ## Count = 48 "{{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}}" "0000067287" "00022788" "70" "400" "0" "401" "0" "c.400_401del" "r.(?)" "p.(Trp136Alafs*2)" "6" "0000067288" "00022788" "70" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(His347Tyr)" "8" "0000067289" "00022788" "70" "287" "0" "287" "0" "c.287G>A" "r.(spl?)" "p.(Arg96Lys)" "4" "0000067290" "00022788" "70" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Gln314*)" "8" "0000067291" "00022788" "70" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Leu23Gln)" "2" "0000071778" "00022788" "90" "129" "0" "129" "0" "c.129T>G" "r.(?)" "p.(Tyr43*)" "3" "0000071779" "00022788" "90" "766" "0" "766" "0" "c.766dup" "r.(?)" "p.(Arg256Profs*18)" "7" "0000256231" "00022788" "50" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Leu23Gln)" "" "0000313074" "00022788" "50" "1132" "0" "1132" "0" "c.1132del" "r.(?)" "p.(Arg378AlafsTer25)" "" "0000319902" "00022788" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Thr345=)" "" "0000319903" "00022788" "10" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Val141Ile)" "" "0000340490" "00022788" "10" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Ser270=)" "" "0000340491" "00022788" "10" "591" "0" "591" "0" "c.591A>G" "r.(?)" "p.(Ser197=)" "" "0000343524" "00022788" "70" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Lys)" "" "0000351387" "00022788" "10" "1201" "0" "1201" "0" "c.*64C>G" "r.(=)" "p.(=)" "" "0000407990" "00022788" "00" "852" "0" "852" "0" "c.852C>T" "r.(=)" "p.(=)" "" "0000555646" "00022788" "50" "1132" "0" "1132" "0" "c.1132del" "r.(?)" "p.(Arg378AlafsTer25)" "" "0000555647" "00022788" "50" "1132" "0" "1132" "0" "c.1132del" "r.(?)" "p.(Arg378AlafsTer25)" "" "0000555648" "00022788" "30" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Ala376Ser)" "" "0000555649" "00022788" "10" "944" "0" "961" "0" "c.944_961del" "r.(?)" "p.(Asp315_Gln320del)" "" "0000555650" "00022788" "30" "883" "8" "883" "8" "c.883+8C>T" "r.(=)" "p.(=)" "" "0000555651" "00022788" "70" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256Gln)" "" "0000555652" "00022788" "10" "591" "0" "591" "0" "c.591A>G" "r.(?)" "p.(Ser197=)" "" "0000555653" "00022788" "70" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Leu23Gln)" "" "0000615561" "00022788" "30" "1002" "0" "1002" "0" "c.1002T>C" "r.(?)" "p.(Asp334=)" "" "0000623311" "00022788" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Ser11=)" "" "0000657675" "00022788" "90" "531" "0" "534" "0" "c.531_534del" "r.(?)" "p.(Ser177ArgfsTer3)" "" "0000680309" "00022788" "50" "1011" "0" "1011" "0" "c.1011G>T" "r.(?)" "p.(Gly337=)" "" "0000701855" "00022788" "70" "974" "0" "974" "0" "c.974T>C" "r.(?)" "p.(Phe325Ser)" "" "0000725325" "00022788" "30" "884" "-3" "884" "-3" "c.884-3C>T" "r.spl?" "p.?" "" "0000806952" "00022788" "10" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "" "0000833453" "00022788" "70" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256Gln)" "" "0000854208" "00022788" "30" "685" "0" "685" "0" "c.685G>C" "r.(?)" "p.(Glu229Gln)" "" "0000854209" "00022788" "10" "353" "-16" "353" "-16" "c.353-16C>G" "r.(=)" "p.(=)" "" "0000863982" "00022788" "10" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Cys)" "" "0000874668" "00022788" "70" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Lys)" "" "0000892305" "00022788" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Val160=)" "" "0000892306" "00022788" "30" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Val141Ile)" "" "0000892307" "00022788" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Gln112*)" "" "0000914377" "00022788" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Gln112=)" "" "0000914378" "00022788" "30" "41" "17" "41" "27" "c.41+17_41+27del" "r.(=)" "p.(=)" "" "0000914379" "00022788" "30" "-56" "0" "-56" "0" "c.-56C>T" "r.(?)" "p.(=)" "" "0000950448" "00022788" "30" "883" "8" "883" "8" "c.883+8C>T" "r.(=)" "p.(=)" "" "0001001711" "00022788" "90" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Lys)" "" "0001001712" "00022788" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Pro3Leu)" "" "0001040632" "00022788" "90" "881" "0" "881" "0" "c.881C>G" "r.(?)" "p.(Ser294*)" "" "0001040633" "00022788" "90" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Lys)" "" "0001046506" "00022788" "30" "1132" "0" "1132" "0" "c.1132dup" "r.(?)" "p.(Arg378Profs*12)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000039655" "0000067287" "0000039656" "0000067288" "0000039657" "0000067289" "0000039658" "0000067290" "0000039659" "0000067291" "0000043993" "0000071778" "0000043994" "0000071779" "0000184022" "0000407990" "0000319191" "0000701855" "0000400537" "0000833453" "0000416540" "0000874668"