### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR60) # 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}}" "WDR60" "WD repeat domain 60" "7" "q36.3" "unknown" "NC_000007.13" "UD_136021782367" "" "https://www.LOVD.nl/WDR60" "" "1" "21862" "55112" "615462" "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/WDR60_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-22 11:48:47" "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}}" "00022777" "WDR60" "WD repeat domain 60" "001" "NM_018051.4" "" "NP_060521.4" "" "" "" "-158" "3614" "3201" "158649269" "158738883" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03972" "SRTD8;SRPS6" "dysplasia, thoracic, short-rib, type 8 with/without polydactyly (SRTD8, short rib polydactyly syndrome 6 (SRPS6))" "AR" "615503" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" "06890" "hamartoma" "hamartoma, hypothalamic" "" "" "" "" "" "00006" "2022-01-13 11:57:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WDR60" "03972" "WDR60" "05635" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00294381" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294382" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327462" "" "" "" "1" "" "03818" "{PMID:McInerney-Leo 2017:28422394}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Australia" ">30y" "0" "" "" "" "SKDP-144.3" "00327500" "" "" "" "2" "" "00006" "{PMID:McInerney-Leo 2013:23910462}" "2-generation family, 2 affected (child and fetus), unaffected heterozygous carrier parents" "M" "no" "Australia" "00y00m01d" "0" "" "" "" "SKDP42" "00327502" "" "" "" "1" "" "00006" "{PMID:McInerney-Leo 2013:23910462}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "JATD76" "00388396" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R04-477" "00388397" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R91-028" "00388398" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R99-392C" "00388399" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R00-121A" "00396718" "" "" "" "1" "" "04116" "" "" "F" "" "" "" "0" "" "" "" "T1198" "00396719" "" "" "" "1" "" "04116" "" "" "F" "" "" "" "0" "" "" "" "T25059" "00396720" "" "" "" "1" "" "04116" "" "" "F" "" "" "" "0" "" "" "" "T25063" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00294381" "00198" "00294382" "00198" "00327462" "00198" "00327500" "05635" "00327502" "05635" "00388396" "00198" "00388397" "00198" "00388398" "00198" "00388399" "00198" "00396718" "06890" "00396719" "06890" "00396720" "06890" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03972, 05635, 06890 ## Count = 10 "{{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}}" "0000245781" "00198" "00327462" "03818" "Familial, autosomal recessive" "30y" "see paper; ..., 8m-leg bowing; 2y-hyperopic astigmatism; retinal dystrophy (HP:0000556); 3y-shortened and thickened ribs; narrow chest (HP:0000774), scoliosis (HP:0002650), short stature (HP:0004322)" "" "" "hyperopic astigmatism" "" "" "" "" "" "" "" "" "0000245782" "05635" "00327500" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ..., 2h-deceased, 16w-ultrasound short long bones; 31w-ultrasound polyhydramnios, severe shortening of long bones with bowed femurs, macrocephaly, short ribs, and ambiguous genitalia" "" "" "" "" "" "" "" "" "SRTD8" "SRPS type III" "" "0000245783" "05635" "00327502" "00006" "Familial, autosomal recessive" "" "see paper; ...; 21w-ultrasound short femora; birth-41w, narrow chest, preaxial polydactyly right hand (extra digit removed by surgery), small clinically insignificant ventricular septal defect; 1y-failure to thrive" "" "" "" "" "" "" "" "" "SRTD8" "Jeune syndrome" "" "0000281948" "00198" "00388396" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281949" "00198" "00388397" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281950" "00198" "00388398" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281951" "00198" "00388399" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000291903" "06890" "00396718" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" "0000291904" "06890" "00396719" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" "0000291905" "06890" "00396720" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295549" "00294381" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295550" "00294382" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328675" "00327462" "1" "03818" "03818" "2021-01-21 21:29:42" "" "" "SEQ" "DNA" "" "" "0000328715" "00327500" "1" "00006" "00006" "2021-01-22 12:10:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328717" "00327502" "1" "00006" "00006" "2021-01-22 12:25:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389637" "00388396" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389638" "00388397" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389639" "00388398" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389640" "00388399" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000397961" "00396718" "1" "04116" "04116" "2021-12-17 01:56:35" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000397962" "00396719" "1" "04116" "04116" "2021-12-17 02:00:16" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000397963" "00396720" "1" "04116" "04116" "2021-12-17 02:13:03" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000328675" "C21orf2" "0000328715" "WDR60" "0000328717" "WDR60" "0000389637" "WDR60" "0000389638" "WDR60" "0000389639" "WDR60" "0000389640" "WDR60" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 59 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000251393" "0" "10" "7" "158707017" "158707017" "subst" "0.0124723" "02326" "WDR60_000002" "g.158707017A>G" "" "" "" "WDR60(NM_018051.5):c.1791+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158914326A>G" "" "benign" "" "0000319860" "0" "30" "7" "158664234" "158664234" "subst" "0.000621929" "01943" "WDR60_000001" "g.158664234G>A" "" "" "" "WDR60(NM_018051.4):c.471G>A (p.A157=), WDR60(NM_018051.5):c.471G>A (p.A157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158871543G>A" "" "likely benign" "" "0000531528" "0" "30" "7" "158663897" "158663897" "subst" "0.00110195" "01804" "WDR60_000003" "g.158663897C>T" "" "" "" "WDR60(NM_018051.4):c.134C>T (p.(Ser45Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158871206C>T" "" "likely benign" "" "0000531530" "0" "30" "7" "158664253" "158664253" "subst" "0.0429909" "01804" "WDR60_000005" "g.158664253G>A" "" "" "" "WDR60(NM_018051.4):c.490G>A (p.(Val164Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158871562G>A" "" "likely benign" "" "0000531532" "0" "30" "7" "158672405" "158672405" "subst" "0.00278195" "01804" "WDR60_000007" "g.158672405C>G" "" "" "" "WDR60(NM_018051.4):c.604C>G (p.(Leu202Val)), WDR60(NM_018051.5):c.604C>G (p.L202V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158879714C>G" "" "likely benign" "" "0000531533" "0" "30" "7" "158672426" "158672426" "subst" "0.000149484" "01804" "WDR60_000008" "g.158672426G>C" "" "" "" "WDR60(NM_001350914.1):c.487G>C (p.E163Q), WDR60(NM_018051.4):c.625G>C (p.(Glu209Gln)), WDR60(NM_018051.5):c.625G>C (p.E209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158879735G>C" "" "likely benign" "" "0000531534" "0" "30" "7" "158679717" "158679717" "subst" "0.00984655" "01804" "WDR60_000009" "g.158679717C>T" "" "" "" "WDR60(NM_018051.4):c.941C>T (p.(Ala314Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158887026C>T" "" "likely benign" "" "0000531535" "0" "30" "7" "158695222" "158695222" "subst" "3.24899E-5" "01943" "WDR60_000010" "g.158695222C>T" "" "" "" "WDR60(NM_018051.4):c.1293C>T (p.G431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158902531C>T" "" "likely benign" "" "0000531536" "0" "30" "7" "158705730" "158705730" "subst" "0" "01943" "WDR60_000011" "g.158705730A>G" "" "" "" "WDR60(NM_018051.4):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158913039A>G" "" "likely benign" "" "0000531537" "0" "70" "7" "158706998" "158706998" "subst" "0" "02327" "WDR60_000012" "g.158706998C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158914307C>T" "" "likely pathogenic" "" "0000531540" "0" "50" "7" "158711458" "158711458" "subst" "3.6566E-5" "01943" "WDR60_000014" "g.158711458C>T" "" "" "" "WDR60(NM_018051.4):c.1819C>T (p.R607C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158918767C>T" "" "VUS" "" "0000531544" "0" "50" "7" "158734677" "158734677" "subst" "0" "02327" "WDR60_000018" "g.158734677A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158941986A>T" "" "VUS" "" "0000611008" "0" "70" "7" "158669371" "158669371" "subst" "0" "01943" "WDR60_000006" "g.158669371C>T" "" "" "" "WDR60(NM_018051.4):c.562C>T (p.R188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158876680C>T" "" "likely pathogenic" "" "0000611009" "0" "50" "7" "158706969" "158706969" "subst" "0" "01943" "WDR60_000020" "g.158706969T>C" "" "" "" "WDR60(NM_018051.4):c.1748T>C (p.I583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158914278T>C" "" "VUS" "" "0000621869" "0" "50" "7" "158672426" "158672426" "subst" "0.000149484" "01943" "WDR60_000008" "g.158672426G>C" "" "" "" "WDR60(NM_001350914.1):c.487G>C (p.E163Q), WDR60(NM_018051.4):c.625G>C (p.(Glu209Gln)), WDR60(NM_018051.5):c.625G>C (p.E209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158879735G>C" "" "VUS" "" "0000652238" "1" "10" "7" "158707017" "158707017" "subst" "0.0124723" "03575" "WDR60_000002" "g.158707017A>G" "35/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs41271217}" "Germline" "" "rs41271217" "0" "" "" "g.158914326A>G" "" "benign" "" "0000652239" "1" "10" "7" "158711439" "158711439" "subst" "0.012644" "03575" "WDR60_000021" "g.158711439C>T" "35/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs41271220}" "Germline" "" "rs41271220" "0" "" "" "g.158918748C>T" "" "benign" "" "0000712730" "1" "90" "7" "158715070" "158715070" "subst" "8.19497E-6" "00006" "WDR60_000022" "g.158715070C>T" "" "{PMID:McInerney-Leo 2013:23910462}, {PMID:McInerney-Leo 2017:28422394}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.158922379C>T" "" "pathogenic (recessive)" "" "0000712732" "11" "90" "7" "158716413" "158716413" "subst" "0" "00006" "WDR60_000023" "g.158716413C>T" "" "{PMID:McInerney-Leo 2013:23910462}" "" "" "" "Germline" "" "" "0" "" "" "g.158923722C>T" "" "pathogenic (recessive)" "" "0000712733" "21" "90" "7" "158711530" "158711530" "subst" "0" "00006" "WDR60_000024" "g.158711530C>T" "" "{PMID:McInerney-Leo 2013:23910462}" "" "" "" "Germline" "yes" "" "0" "" "" "g.158918839C>T" "" "pathogenic (recessive)" "" "0000712735" "11" "90" "7" "158716413" "158716413" "subst" "0" "00006" "WDR60_000023" "g.158716413C>T" "" "{PMID:McInerney-Leo 2013:23910462}" "" "" "" "Germline" "" "" "0" "" "" "g.158923722C>T" "" "pathogenic (recessive)" "" "0000712736" "21" "90" "7" "158706921" "158706921" "subst" "8.42581E-6" "00006" "WDR60_000025" "g.158706921T>A" "" "{PMID:McInerney-Leo 2013:23910462}" "" "" "" "Germline" "" "" "0" "" "" "g.158914230T>A" "" "pathogenic (recessive)" "" "0000721392" "0" "30" "7" "158663939" "158663939" "subst" "0.000782826" "01943" "WDR60_000004" "g.158663939A>G" "" "" "" "WDR60(NM_001350914.1):c.38A>G (p.D13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721393" "0" "30" "7" "158734669" "158734669" "subst" "4.09695E-6" "01943" "WDR60_000026" "g.158734669G>A" "" "" "" "WDR60(NM_001350918.1):c.1584G>A (p.P528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803081" "0" "30" "7" "158664234" "158664234" "subst" "0.000621929" "02326" "WDR60_000001" "g.158664234G>A" "" "" "" "WDR60(NM_018051.4):c.471G>A (p.A157=), WDR60(NM_018051.5):c.471G>A (p.A157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818805" "0" "90" "7" "158718925" "158718925" "subst" "4.07455E-5" "00000" "WDR60_000028" "g.158718925G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_018051.4:c.2305G>A" "variant 2nd chromosome not mentioned" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818806" "0" "90" "7" "158718925" "158718925" "subst" "4.07455E-5" "00000" "WDR60_000028" "g.158718925G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_018051.4:c.2305G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818807" "0" "90" "7" "158734678" "158734678" "del" "4.08193E-5" "00000" "WDR60_000030" "g.158734678del" "" "{PMID:Zhang-2019:29068549}" "" "NM_018051.4:c.2841del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818808" "0" "90" "7" "158718904" "158718904" "subst" "0" "00000" "WDR60_000027" "g.158718904C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_018051.4:c.2284C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818809" "0" "90" "7" "158723163" "158723165" "dup" "0" "00000" "WDR60_000029" "g.158723163_158723165dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_018051.4:c.2503_2505dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818810" "0" "90" "7" "158706998" "158706998" "subst" "0" "00000" "WDR60_000012" "g.158706998C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_018051.4:c.1777C>T" "variant 2nd chromosome not mentioned" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830144" "0" "70" "7" "158706923" "158706923" "subst" "0" "04116" "WDR60_000033" "g.158706923G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000830145" "0" "70" "7" "158694455" "158694455" "del" "0" "04116" "WDR60_000032" "g.158694455del" "" "" "" "1083del" "" "Germline" "" "" "0" "" "" "g.158901764del" "" "VUS" "" "0000830146" "0" "70" "7" "158672478" "158672481" "del" "0" "04116" "WDR60_000031" "g.158672478_158672481del" "" "" "" "673_676del" "" "Somatic" "" "" "0" "" "" "g.158879787_158879790del" "" "VUS" "" "0000830147" "0" "70" "7" "158716357" "158716358" "del" "0" "04116" "WDR60_000034" "g.158716357_158716358del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158923666_158923667del" "" "VUS" "" "0000860714" "0" "30" "7" "158704245" "158704245" "subst" "0.000814106" "02326" "WDR60_000035" "g.158704245C>G" "" "" "" "WDR60(NM_018051.5):c.1465C>G (p.R489G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887807" "0" "30" "7" "158664120" "158664120" "subst" "0.00072154" "02326" "WDR60_000036" "g.158664120G>A" "" "" "" "WDR60(NM_018051.5):c.357G>A (p.K119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887808" "0" "30" "7" "158705741" "158705741" "subst" "6.9172E-5" "02326" "WDR60_000037" "g.158705741G>A" "" "" "" "WDR60(NM_018051.5):c.1656G>A (p.R552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887809" "0" "10" "7" "158705770" "158705770" "subst" "0.00118616" "02326" "WDR60_000038" "g.158705770G>A" "" "" "" "WDR60(NM_018051.5):c.1685G>A (p.S562N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887810" "0" "30" "7" "158707031" "158707031" "subst" "0.000791626" "02326" "WDR60_000039" "g.158707031T>C" "" "" "" "WDR60(NM_018051.5):c.1791+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887811" "0" "70" "7" "158734625" "158734625" "dup" "0" "02326" "WDR60_000040" "g.158734625dup" "" "" "" "WDR60(NM_018051.5):c.2788dupT (p.S930Ffs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887812" "0" "90" "7" "158734844" "158734844" "subst" "5.45774E-6" "02327" "WDR60_000041" "g.158734844G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912724" "0" "30" "7" "158716318" "158716318" "subst" "0.000146192" "02326" "WDR60_000042" "g.158716318G>A" "" "" "" "WDR60(NM_018051.5):c.2151G>A (p.A717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924696" "0" "30" "7" "158715052" "158715052" "subst" "0.000484657" "02326" "WDR60_000043" "g.158715052T>C" "" "" "" "WDR60(NM_018051.5):c.1922-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924697" "0" "30" "7" "158715064" "158715064" "del" "0" "02326" "WDR60_000044" "g.158715064del" "" "" "" "WDR60(NM_018051.5):c.1922-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924698" "0" "30" "7" "158716377" "158716377" "subst" "0.000751391" "02326" "WDR60_000045" "g.158716377C>T" "" "" "" "WDR60(NM_018051.5):c.2210C>T (p.T737M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948898" "0" "30" "7" "158672405" "158672405" "subst" "0.00278195" "02326" "WDR60_000007" "g.158672405C>G" "" "" "" "WDR60(NM_018051.4):c.604C>G (p.(Leu202Val)), WDR60(NM_018051.5):c.604C>G (p.L202V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948899" "0" "30" "7" "158684005" "158684005" "subst" "0.000824359" "02326" "WDR60_000046" "g.158684005C>T" "" "" "" "WDR60(NM_018051.5):c.1040C>T (p.P347L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964540" "0" "90" "7" "158677309" "158677309" "subst" "0" "02326" "WDR60_000047" "g.158677309C>T" "" "" "" "WDR60(NM_018051.5):c.934C>T (p.Q312*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977642" "0" "30" "7" "158706921" "158706921" "dup" "0" "01804" "WDR60_000049" "g.158706921dup" "" "" "" "WDR60(NM_018051.5):c.1703-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977643" "0" "50" "7" "158715071" "158715071" "subst" "8.1886E-6" "01804" "WDR60_000050" "g.158715071G>A" "" "" "" "WDR60(NM_018051.5):c.1925G>A (p.(Arg642Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977644" "0" "30" "7" "158719116" "158719116" "subst" "0.00560876" "01804" "WDR60_000051" "g.158719116A>G" "" "" "" "WDR60(NM_018051.5):c.2395A>G (p.(Ile799Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977645" "0" "30" "7" "158719139" "158719139" "subst" "0.00187203" "02326" "WDR60_000052" "g.158719139G>T" "" "" "" "WDR60(NM_018051.5):c.2418G>T (p.G806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014334" "0" "30" "7" "158672426" "158672426" "subst" "0.000149484" "02326" "WDR60_000008" "g.158672426G>C" "" "" "" "WDR60(NM_001350914.1):c.487G>C (p.E163Q), WDR60(NM_018051.4):c.625G>C (p.(Glu209Gln)), WDR60(NM_018051.5):c.625G>C (p.E209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036292" "0" "30" "7" "158664192" "158664192" "subst" "7.13542E-6" "01804" "WDR60_000053" "g.158664192G>T" "" "" "" "WDR60(NM_018051.5):c.429G>T (p.(Leu143=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036293" "0" "50" "7" "158705761" "158705761" "subst" "0.000191441" "01804" "WDR60_000054" "g.158705761C>T" "" "" "" "WDR60(NM_018051.5):c.1676C>T (p.(Pro559Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036294" "0" "30" "7" "158719739" "158719739" "subst" "3.19912E-5" "01804" "WDR60_000055" "g.158719739C>A" "" "" "" "WDR60(NM_018051.5):c.2485+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036295" "0" "50" "7" "158726830" "158726838" "del" "0" "01804" "WDR60_000056" "g.158726830_158726838del" "" "" "" "WDR60(NM_018051.5):c.2557_2565del (p.(Lys853_Asn855del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036296" "0" "50" "7" "158738468" "158738504" "del" "0" "01804" "WDR60_000057" "g.158738468_158738504del" "" "" "" "WDR60(NM_018051.5):c.3199_*34del (p.(*1067Thrext*3))" "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 WDR60 ## Count = 59 "{{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}}" "0000251393" "00022777" "10" "1791" "5" "1791" "5" "c.1791+5A>G" "r.spl?" "p.?" "" "0000319860" "00022777" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Ala157=)" "" "0000531528" "00022777" "30" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Phe)" "" "0000531530" "00022777" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Val164Ile)" "" "0000531532" "00022777" "30" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Leu202Val)" "" "0000531533" "00022777" "30" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0000531534" "00022777" "30" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ala314Val)" "" "0000531535" "00022777" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Gly431=)" "" "0000531536" "00022777" "30" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "0000531537" "00022777" "70" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Trp)" "" "0000531540" "00022777" "50" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Cys)" "" "0000531544" "00022777" "50" "2840" "0" "2840" "0" "c.2840A>T" "r.(?)" "p.(Gln947Leu)" "" "0000611008" "00022777" "70" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "" "0000611009" "00022777" "50" "1748" "0" "1748" "0" "c.1748T>C" "r.(?)" "p.(Ile583Thr)" "" "0000621869" "00022777" "50" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0000652238" "00022777" "10" "1791" "5" "1791" "5" "c.1791+5A>G" "r.spl?" "p.?" "" "0000652239" "00022777" "10" "1800" "0" "1800" "0" "c.1800C>T" "r.(=)" "p.(=)" "" "0000712730" "00022777" "90" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Arg642*)" "" "0000712732" "00022777" "90" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Thr749Met)" "" "0000712733" "00022777" "90" "1891" "0" "1891" "0" "c.1891C>T" "r.(?)" "p.(Gln631*)" "" "0000712735" "00022777" "90" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Thr749Met)" "" "0000712736" "00022777" "90" "1703" "-3" "1703" "-3" "c.1703-3T>A" "r.1703_1791del" "p.Ser569Aspfs*13" "13i" "0000721392" "00022777" "30" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asp59Gly)" "" "0000721393" "00022777" "30" "2832" "0" "2832" "0" "c.2832G>A" "r.(?)" "p.(Pro944=)" "" "0000803081" "00022777" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Ala157=)" "" "0000818805" "00022777" "90" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Glu769Lys)" "18" "0000818806" "00022777" "90" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Glu769Lys)" "18" "0000818807" "00022777" "90" "2841" "0" "2841" "0" "c.2841del" "r.(?)" "p.(Gln947Hisfs*89)" "24" "0000818808" "00022777" "90" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Arg762*)" "18" "0000818809" "00022777" "90" "2503" "0" "2505" "0" "c.2503_2505dup" "r.(?)" "p.(Arg835dup)" "21" "0000818810" "00022777" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Trp)" "14" "0000830144" "00022777" "70" "1703" "-1" "1703" "-1" "c.1703-1G>A" "r.spl" "p.?" "" "0000830145" "00022777" "70" "1085" "0" "1085" "0" "c.1085del" "r.(?)" "p.(Asp361ValfsTer2)" "" "0000830146" "00022777" "70" "677" "0" "680" "0" "c.677_680del" "r.(?)" "p.(Lys226ThrfsTer91)" "" "0000830147" "00022777" "70" "2190" "0" "2191" "0" "c.2190_2191del" "r.(?)" "p.(Arg731AlafsTer73)" "" "0000860714" "00022777" "30" "1465" "0" "1465" "0" "c.1465C>G" "r.(?)" "p.(Arg489Gly)" "" "0000887807" "00022777" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Lys119=)" "" "0000887808" "00022777" "30" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Arg552=)" "" "0000887809" "00022777" "10" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Ser562Asn)" "" "0000887810" "00022777" "30" "1791" "19" "1791" "19" "c.1791+19T>C" "r.(=)" "p.(=)" "" "0000887811" "00022777" "70" "2788" "0" "2788" "0" "c.2788dup" "r.(?)" "p.(Ser930Phefs*81)" "" "0000887812" "00022777" "90" "3002" "5" "3002" "5" "c.3002+5G>C" "r.spl?" "p.?" "" "0000912724" "00022777" "30" "2151" "0" "2151" "0" "c.2151G>A" "r.(?)" "p.(Ala717=)" "" "0000924696" "00022777" "30" "1922" "-16" "1922" "-16" "c.1922-16T>C" "r.(=)" "p.(=)" "" "0000924697" "00022777" "30" "1922" "-4" "1922" "-4" "c.1922-4del" "r.spl?" "p.?" "" "0000924698" "00022777" "30" "2210" "0" "2210" "0" "c.2210C>T" "r.(?)" "p.(Thr737Met)" "" "0000948898" "00022777" "30" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Leu202Val)" "" "0000948899" "00022777" "30" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Pro347Leu)" "" "0000964540" "00022777" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Gln312*)" "" "0000977642" "00022777" "30" "1703" "-3" "1703" "-3" "c.1703-3dup" "r.spl?" "p.?" "" "0000977643" "00022777" "50" "1925" "0" "1925" "0" "c.1925G>A" "r.(?)" "p.(Arg642Gln)" "" "0000977644" "00022777" "30" "2395" "0" "2395" "0" "c.2395A>G" "r.(?)" "p.(Ile799Val)" "" "0000977645" "00022777" "30" "2418" "0" "2418" "0" "c.2418G>T" "r.(?)" "p.(=)" "" "0001014334" "00022777" "30" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0001036292" "00022777" "30" "429" "0" "429" "0" "c.429G>T" "r.(?)" "p.(=)" "" "0001036293" "00022777" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Pro559Leu)" "" "0001036294" "00022777" "30" "2485" "5" "2485" "5" "c.2485+5C>A" "r.spl?" "p.?" "" "0001036295" "00022777" "50" "2557" "0" "2565" "0" "c.2557_2565del" "r.(?)" "p.(Lys853_Asn855del)" "" "0001036296" "00022777" "50" "3199" "0" "3235" "0" "c.3199_*34del" "r.(?)" "p.(*1067Thrext*3)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000295549" "0000652238" "0000295550" "0000652239" "0000328675" "0000712730" "0000328715" "0000712732" "0000328715" "0000712733" "0000328717" "0000712735" "0000328717" "0000712736" "0000389637" "0000818805" "0000389638" "0000818806" "0000389638" "0000818807" "0000389639" "0000818808" "0000389639" "0000818809" "0000389640" "0000818810" "0000397961" "0000830144" "0000397962" "0000830145" "0000397962" "0000830146" "0000397963" "0000830147"