### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR36) # 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}}" "WDR36" "WD repeat domain 36" "5" "q22.2" "unknown" "NG_008979.1" "UD_132118769907" "" "https://www.LOVD.nl/WDR36" "" "1" "30696" "134430" "609669" "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/WDR36_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-29 19:01:10" "00000" "2025-05-05 21:14:00" ## 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}}" "00022761" "WDR36" "WD repeat domain 36" "001" "NM_139281.2" "" "NP_644810.1" "" "" "" "-117" "6475" "2856" "110427870" "110466200" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00422" "DPDD" "dihydropyrimidine dehydrogenase deficiency (DPDD)" "AR" "274270" "" "" "" "00006" "2014-06-17 21:43:51" "00006" "2021-12-10 21:51:32" "00477" "OCA2" "albinism, oculocutaneous, type II (OCA-2, brown)" "AR" "203200" "" "" "" "00006" "2014-07-24 21:48:34" "00006" "2021-12-10 21:51:32" "02882" "GLC1G" "glaucoma, open angle, type 1G (GLC-G)" "" "609887" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "WDR36" "02882" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00228665" "" "" "00155716" "1" "" "00006" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "M" "" "Netherlands" "" "0" "" "" "" "son" "00293686" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293687" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293688" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293689" "" "" "" "93" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363803" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G438" "00363804" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G387" "00363805" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G445" "00363806" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G501" "00363807" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G411" "00363808" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G392" "00363809" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G229" "00363810" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G166" "00363811" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G666" "00363812" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G674" "00363813" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G626" "00382122" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "74" "00415652" "" "" "" "5" "" "00000" "{PMID:Mackay 2015:26162006}" "" "" "" "" "" "0" "" "" "African-American" "I:1, I:4, II:5, II:7, II:10" "00434081" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat56" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00228665" "00422" "00293686" "00198" "00293687" "00198" "00293688" "00198" "00293689" "00198" "00363803" "04267" "00363804" "04267" "00363805" "04267" "00363806" "04267" "00363807" "04267" "00363808" "04267" "00363809" "04267" "00363810" "04267" "00363811" "04267" "00363812" "04267" "00363813" "04267" "00382122" "00477" "00415652" "04214" "00434081" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00422, 00477, 02882, 04214, 04267 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000172603" "00422" "00228665" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., born with apparent cortical blindness, subsequently exhibited severe\r\ndevelopmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability" "" "" "" "" "" "" "" "" "" "DPDD" "" "" "0000259150" "04267" "00363803" "00000" "Isolated (sporadic)" "33y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "" "0000259151" "04267" "00363804" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259152" "04267" "00363805" "00000" "Isolated (sporadic)" "42y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259153" "04267" "00363806" "00000" "Isolated (sporadic)" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259154" "04267" "00363807" "00000" "Isolated (sporadic)" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259155" "04267" "00363808" "00000" "Isolated (sporadic)" "69y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259156" "04267" "00363809" "00000" "Familial, autosomal dominant" "55y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259157" "04267" "00363810" "00000" "Familial, autosomal dominant" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259158" "04267" "00363811" "00000" "Isolated (sporadic)" "75y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259159" "04267" "00363812" "00000" "Isolated (sporadic)" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259160" "04267" "00363813" "00000" "Isolated (sporadic)" "88y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000275964" "00477" "00382122" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 137750 or 609887" "" "" "" "" "" "" "" "" "" "" "MIM, 137750 or 609887" "" "0000307432" "04214" "00415652" "00000" "Familial, autosomal dominant" "" "significantly elevated intra ocular pressure (IOP) >30 mm Hg with consistent visual field and/or optic nerve abnormalities." "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Primary Open-Angle Glaucoma" "" "0000324457" "00296" "00434081" "00006" "Familial, autosomal dominant" "" "bilateral nuclear cataract" "" "" "" "" "" "" "" "" "" "" "cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229755" "00228665" "1" "00006" "00006" "2019-03-23 16:29:58" "00006" "2019-03-23 16:40:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000294854" "00293686" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294855" "00293687" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294856" "00293688" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294857" "00293689" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000365031" "00363803" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365032" "00363804" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365033" "00363805" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365034" "00363806" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365035" "00363807" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365036" "00363808" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365037" "00363809" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365038" "00363810" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365039" "00363811" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365040" "00363812" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000365041" "00363813" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000383338" "00382122" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000429368" "00415652" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ;SEQ-NG;microsat" "DNA" "blood" "" "0000435548" "00434081" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000229755" "DPYD" "0000365031" "WDR36" "0000365032" "WDR36" "0000365033" "WDR36" "0000365034" "WDR36" "0000365035" "WDR36" "0000365036" "WDR36" "0000365037" "WDR36" "0000365038" "WDR36" "0000365039" "WDR36" "0000365040" "WDR36" "0000365041" "WDR36" "0000383338" "MYOC" "0000429368" "EFEMP1" ## 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 = 38 "{{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}}" "0000248544" "0" "10" "5" "110456704" "110456704" "subst" "0.330035" "02325" "WDR36_000003" "g.110456704A>T" "" "" "" "WDR36(NM_139281.3):c.2013A>T (p.V671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111121006A>T" "" "benign" "" "0000248789" "0" "10" "5" "110439509" "110439509" "subst" "0.328623" "02325" "WDR36_000002" "g.110439509A>G" "" "" "" "WDR36(NM_139281.3):c.622A>G (p.I208V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111103810A>G" "" "benign" "" "0000319846" "0" "30" "5" "110428085" "110428085" "subst" "0.00372209" "01943" "WDR36_000001" "g.110428085C>G" "" "" "" "WDR36(NM_139281.2):c.99C>G (p.D33E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111092387C>G" "" "likely benign" "" "0000470945" "3" "70" "5" "110454719" "110454719" "subst" "0.00432603" "00006" "WDR36_000004" "g.110454719A>G" "" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "" "" "Germline" "" "rs34595252" "0" "" "" "g.111119021A>G" "" "VUS" "" "0000523656" "0" "10" "5" "110446903" "110446903" "subst" "0.00136212" "01943" "WDR36_000005" "g.110446903A>G" "" "" "" "WDR36(NM_139281.2):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111111204A>G" "" "benign" "" "0000651543" "1" "30" "5" "110434448" "110434448" "subst" "0.00419388" "03575" "WDR36_000006" "g.110434448C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs62376783}" "Germline" "" "rs62376783" "0" "" "" "g.111098750C>T" "" "likely benign" "" "0000651544" "1" "30" "5" "110445979" "110445979" "subst" "0.00072919" "03575" "WDR36_000007" "g.110445979G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116529882}" "Germline" "" "rs116529882" "0" "" "" "g.111110280G>A" "" "likely benign" "" "0000651545" "1" "30" "5" "110454719" "110454719" "subst" "0.00432603" "03575" "WDR36_000004" "g.110454719A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs34595252}" "Germline" "" "rs34595252" "0" "" "" "g.111119021A>G" "" "likely benign" "" "0000651546" "1" "30" "5" "110462674" "110462674" "subst" "0" "03575" "WDR36_000008" "g.110462674A>C" "93/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "93 heterozygous, no homozygous; {DB:CLININrs114583874}" "Germline" "" "rs114583874" "0" "" "" "g.111126976A>C" "" "likely benign" "" "0000689366" "0" "50" "5" "110428276" "110428276" "subst" "3.69331E-5" "01943" "WDR36_000009" "g.110428276A>G" "" "" "" "WDR36(NM_139281.2):c.290A>G (p.Y97C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765981" "1" "90" "5" "110434571" "110434574" "dup" "0" "00000" "WDR36_000012" "g.110434571_110434574dup" "" "{PMID:Huang 2014:24825108}" "" "577+37_577+38dupGGGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111098873_111098876dup" "" "pathogenic" "" "0000765982" "1" "90" "5" "110436308" "110436308" "subst" "0" "00000" "WDR36_000013" "g.110436308T>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.111100609T>G" "" "pathogenic" "" "0000765983" "1" "90" "5" "110439640" "110439640" "subst" "0" "00000" "WDR36_000014" "g.110439640A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111103941A>G" "" "pathogenic" "" "0000765984" "1" "90" "5" "110446522" "110446522" "subst" "5.72532E-5" "00000" "WDR36_000015" "g.110446522G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111110823G>A" "" "pathogenic" "" "0000765985" "1" "90" "5" "110446522" "110446522" "subst" "5.72532E-5" "00000" "WDR36_000015" "g.110446522G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111110823G>A" "" "pathogenic" "" "0000765986" "1" "90" "5" "110446523" "110446523" "subst" "0" "00000" "WDR36_000016" "g.110446523G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111110824G>A" "" "pathogenic" "" "0000765987" "1" "90" "5" "110461422" "110461422" "subst" "0" "00000" "WDR36_000017" "g.110461422A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.111125724A>G" "" "pathogenic" "" "0000765988" "1" "90" "5" "110462528" "110462528" "subst" "2.04248E-5" "00000" "WDR36_000018" "g.110462528C>T" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.111126830C>T" "" "pathogenic" "" "0000765989" "1" "90" "5" "110428269" "110428269" "subst" "9.02409E-5" "00000" "WDR36_000010" "g.110428269C>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111092571C>G" "" "pathogenic" "" "0000765990" "1" "90" "5" "110432869" "110432869" "subst" "4.06669E-6" "00000" "WDR36_000011" "g.110432869A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111097171A>G" "" "pathogenic" "" "0000765991" "1" "90" "5" "110446522" "110446522" "subst" "5.72532E-5" "00000" "WDR36_000015" "g.110446522G>A" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111110823G>A" "" "pathogenic" "" "0000765996" "0" "90" "5" "110461422" "110461422" "subst" "0" "00000" "WDR36_000017" "g.110461422A>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.111125724A>G" "" "pathogenic" "" "0000797447" "21" "70" "5" "110440041" "110440041" "subst" "0.000232236" "00000" "WDR36_000019" "g.110440041A>G" "" "{PMID:Patel 2019:30653986}" "" "c.1102C-->T, c.1064A-->G; p.Gln368*, p.Asn355Ser" "confirmed with Sanger sequencing; heterozygous, heterozygous" "Germline" "yes" "" "0" "" "" "g.111104342A>G" "" "likely pathogenic" "" "0000801770" "0" "30" "5" "110436301" "110436301" "subst" "0.00252021" "01943" "WDR36_000020" "g.110436301G>A" "" "" "" "WDR36(NM_139281.2):c.591G>A (p.Q197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801771" "0" "50" "5" "110439588" "110439588" "subst" "0" "01943" "WDR36_000021" "g.110439588G>C" "" "" "" "WDR36(NM_139281.2):c.869G>C (p.G290A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801772" "0" "50" "5" "110440034" "110440034" "subst" "0.000448229" "01943" "WDR36_000022" "g.110440034G>T" "" "" "" "WDR36(NM_139281.2):c.1057G>T (p.A353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801773" "0" "30" "5" "110462488" "110462488" "subst" "4.07262E-5" "01943" "WDR36_000023" "g.110462488G>A" "" "" "" "WDR36(NM_139281.2):c.2763G>A (p.L921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850703" "0" "30" "5" "110428286" "110428286" "subst" "0.000234587" "01943" "WDR36_000024" "g.110428286C>T" "" "" "" "WDR36(NM_139281.2):c.300C>T (p.T100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850704" "0" "50" "5" "110428305" "110428305" "subst" "5.79806E-5" "01943" "WDR36_000025" "g.110428305C>T" "" "" "" "WDR36(NM_139281.2):c.319C>T (p.H107Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850705" "0" "30" "5" "110436296" "110436296" "subst" "0" "01943" "WDR36_000026" "g.110436296C>T" "" "" "" "WDR36(NM_139281.2):c.586C>T (p.L196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850706" "0" "50" "5" "110438045" "110438045" "subst" "9.97108E-5" "01943" "WDR36_000027" "g.110438045A>G" "" "" "" "WDR36(NM_139281.2):c.712A>G (p.K238E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850707" "0" "30" "5" "110456752" "110456752" "subst" "3.66524E-5" "01943" "WDR36_000029" "g.110456752G>A" "" "" "" "WDR36(NM_139281.2):c.2229G>A (p.S743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859650" "0" "50" "5" "110443041" "110443041" "subst" "7.35559E-5" "01943" "WDR36_000028" "g.110443041G>A" "" "" "" "WDR36(NM_139281.2):c.1397G>A (p.G466D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908835" "0" "10" "5" "110439575" "110439575" "subst" "2.03977E-5" "00000" "WDR36_000030" "g.110439575C>T" "" "{PMID:Mackay 2015:26162006}" "" "WDR36 (rs144543625)" "did not segregate in II:5 and II:10" "Germline" "no" "rs144543625" "0" "" "" "" "" "benign" "" "0000912169" "0" "50" "5" "110440034" "110440034" "subst" "0.000448229" "02327" "WDR36_000022" "g.110440034G>T" "" "" "" "WDR36(NM_139281.2):c.1057G>T (p.A353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921548" "1" "90" "5" "110456229" "110456229" "subst" "0" "00006" "WDR36_000031" "g.110456229G>A" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.111120531G>A" "" "pathogenic" "" "0000994522" "0" "10" "5" "110448753" "110448754" "ins" "0" "02326" "WDR36_000032" "g.110448753_110448754insATATA" "" "" "" "WDR36(NM_139281.2):c.1885-20_1885-19insATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034765" "0" "30" "5" "110440033" "110440033" "subst" "0.000162982" "01804" "WDR36_000033" "g.110440033C>T" "" "" "" "WDR36(NM_139281.3):c.888C>T (p.(Gly296=))" "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 WDR36 ## Count = 38 "{{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}}" "0000248544" "00022761" "10" "2181" "0" "2181" "0" "c.2181A>T" "r.(?)" "p.(Val727=)" "" "0000248789" "00022761" "10" "790" "0" "790" "0" "c.790A>G" "r.(?)" "p.(Ile264Val)" "" "0000319846" "00022761" "30" "99" "0" "99" "0" "c.99C>G" "r.(?)" "p.(Asp33Glu)" "" "0000470945" "00022761" "70" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asp658Gly)" "" "0000523656" "00022761" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000651543" "00022761" "30" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Ala163Val)" "" "0000651544" "00022761" "30" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529Gln)" "" "0000651545" "00022761" "30" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asp658Gly)" "" "0000651546" "00022761" "30" "2949" "0" "2949" "0" "c.*93A>C" "r.(=)" "p.(=)" "" "0000689366" "00022761" "50" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Tyr97Cys)" "" "0000765981" "00022761" "90" "577" "34" "577" "37" "c.577+34_577+37dup" "r.spl" "p.?" "" "0000765982" "00022761" "90" "598" "0" "598" "0" "c.598T>G" "r.(?)" "p.(Phe200Val)" "" "0000765983" "00022761" "90" "898" "23" "898" "23" "c.898+23A>G" "r.spl" "p.?" "" "0000765984" "00022761" "90" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" "0000765985" "00022761" "90" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" "0000765986" "00022761" "90" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Gly549Glu)" "" "0000765987" "00022761" "90" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Met879Val)" "" "0000765988" "00022761" "90" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(Leu935Phe)" "" "0000765989" "00022761" "90" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.(Arg95Gly)" "" "0000765990" "00022761" "90" "451" "0" "451" "0" "c.451A>G" "r.(?)" "p.(Asn151Asp)" "" "0000765991" "00022761" "90" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" "0000765996" "00022761" "90" "2635" "0" "2635" "0" "c.2635A>G" "r.spl" "p.(Met879Val)" "" "0000797447" "00022761" "70" "1064" "0" "1064" "0" "c.1064A>G" "r.(?)" "p.(Asn355Ser)" "" "0000801770" "00022761" "30" "591" "0" "591" "0" "c.591G>A" "r.(?)" "p.(Gln197=)" "" "0000801771" "00022761" "50" "869" "0" "869" "0" "c.869G>C" "r.(?)" "p.(Gly290Ala)" "" "0000801772" "00022761" "50" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Ala353Ser)" "" "0000801773" "00022761" "30" "2763" "0" "2763" "0" "c.2763G>A" "r.(?)" "p.(Leu921=)" "" "0000850703" "00022761" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Thr100=)" "" "0000850704" "00022761" "50" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(His107Tyr)" "" "0000850705" "00022761" "30" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Leu196=)" "" "0000850706" "00022761" "50" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Lys238Glu)" "" "0000850707" "00022761" "30" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Ser743=)" "" "0000859650" "00022761" "50" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Gly466Asp)" "" "0000908835" "00022761" "10" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Cys)" "7" "0000912169" "00022761" "50" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Ala353Ser)" "" "0000921548" "00022761" "90" "2108" "0" "2108" "0" "c.2108G>A" "r.(?)" "p.(Arg703Gln)" "" "0000994522" "00022761" "10" "1885" "-20" "1885" "-19" "c.1885-20_1885-19insATATA" "r.(=)" "p.(=)" "" "0001034765" "00022761" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000229755" "0000470945" "0000294854" "0000651543" "0000294855" "0000651544" "0000294856" "0000651545" "0000294857" "0000651546" "0000365031" "0000765981" "0000365031" "0000765996" "0000365032" "0000765982" "0000365033" "0000765983" "0000365034" "0000765984" "0000365035" "0000765985" "0000365036" "0000765986" "0000365037" "0000765987" "0000365038" "0000765988" "0000365039" "0000765989" "0000365040" "0000765990" "0000365041" "0000765991" "0000383338" "0000797447" "0000429368" "0000908835" "0000435548" "0000921548"