### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR62) # 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}}" "WDR62" "WD repeat domain 62" "19" "q13.12" "unknown" "NG_028101.1" "UD_132119041518" "" "https://www.LOVD.nl/WDR62" "" "1" "24502" "284403" "613583" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/WDR62_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-01-26 21:35:43" "00000" "2026-01-20 18:57:21" ## 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}}" "00001437" "WDR62" "transcript variant 1" "001" "NM_001083961.1" "" "NP_001077430.1" "" "" "" "-91" "4654" "4572" "36545783" "36596012" "00000" "2012-09-13 13:33:24" "" "" ## 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}}" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02495" "MCPH2" "microcephaly, type 2, autosomal recessive, with/without cortical malformations (MCPH-2)" "AR" "604317" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WDR62" "00139" "WDR62" "02495" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00144615" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00150138" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3469" "00155311" "" "" "" "7" "" "00006" "{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}" "5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "26805784-FamDEM4154" "00269883" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00275652" "" "" "" "4" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR110Pat1" "00275653" "" "" "00275652" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR110Pat2" "00275654" "" "" "00275652" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR110Pat3" "00275655" "" "" "00275652" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR110Pat7" "00275666" "" "" "" "4" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77APat3" "00275667" "" "" "00275666" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77APat5" "00275668" "" "" "00275666" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77APat8" "00275669" "" "" "00275666" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77BPat7" "00318002" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR152" "00331728" "" "" "" "1" "" "03388" "" "" "M" "yes" "Iran" "11y?" "" "" "" "Persian" "WDR62-affected male" "00361612" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "14DG0950" "00374244" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2563" "00374881" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-193" "00387725" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M202" "00387768" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8500096" "00387800" "" "" "" "1" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700010" "00403859" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF022" "00433363" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "M" "no" "" "" "0" "" "" "white" "Pat32" "00433364" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "F" "no" "Belgium" "" "0" "" "" "" "Pat33" "00433365" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "M" "yes" "Turkey" "" "0" "" "" "" "Pat34" "00433366" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "M" "no" "Belgium" "" "0" "" "" "" "Pat35" "00433367" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "M" "no" "Belgium" "" "0" "" "" "" "Pat36" "00433368" "" "" "" "2" "" "00006" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "family, 2 affected sisters" "F" "no" "Belgium" "" "0" "" "" "" "Pan14;Pat37" "00433369" "" "" "" "1" "" "00006" "{PMID:Nicolas 2010:20890279}, {PMID:Duerinckx 2021: 34402213}" "patient" "F" "yes" "Belgium" "" "0" "" "" "" "PatPC12;Pat38" "00433756" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP14" "00433757" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP1" "00433758" "" "" "" "3" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP28" "00433759" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP87" "00433760" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP59" "00433952" "" "" "" "4" "" "00006" "{PMID:Ahmad 2017:28004384}" "7-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Baloch" "MCP129" "00433973" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam1" "00433983" "" "" "" "5" "" "00006" "{PMID:Wang 2017:27784895}" "5-generation family, 5 affected (5F), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam17" "00433992" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (2F), unaffected heterozygous parents/relatives3" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam43" "00465600" "" "" "" "1" "" "04851" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "" "00469512" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00144615" "00198" "00150138" "00198" "00155311" "05400" "00269883" "00198" "00275652" "00139" "00275653" "00139" "00275654" "00139" "00275655" "00139" "00275666" "00139" "00275667" "00139" "00275668" "00139" "00275669" "00139" "00318002" "00139" "00331728" "02495" "00361612" "00139" "00374244" "00198" "00374881" "00198" "00387725" "00139" "00387768" "00139" "00387800" "00139" "00403859" "05611" "00433363" "05421" "00433364" "05421" "00433365" "05421" "00433366" "05421" "00433367" "05421" "00433368" "05421" "00433369" "05421" "00433756" "05421" "00433757" "05421" "00433758" "05421" "00433759" "05421" "00433760" "05421" "00433952" "05421" "00433973" "05421" "00433983" "05421" "00433992" "05421" "00465600" "00139" "00469512" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 02495, 05400, 05421, 05611 ## Count = 40 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000117356" "00198" "00144615" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000122540" "00198" "00150138" "00006" "Familial, autosomal recessive" "" "intellectual diability, severe microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000127811" "05400" "00155311" "00006" "Familial, autosomal recessive" "" "congenital profound hearing impairment, limb malformations, no other abnormalities" "" "" "" "" "" "" "" "" "DFNB-68" "deafness, autosomal recessive (DFNB)" "" "0000207679" "00198" "00269883" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000210263" "00139" "00275652" "00006" "Familial, autosomal recessive" "6y" "OFC 38.5cm; IQ 32, severe intellectual disability (HP:0010864); microcephaly, high pain threshold" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210264" "00139" "00275653" "00006" "Familial, autosomal recessive" "4y" "OFC 35cm; IQ 34, severe intellectual disability (HP:0010864); microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210265" "00139" "00275654" "00006" "Familial, autosomal recessive" "7y" "OFC 40cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210266" "00139" "00275655" "00006" "Familial, autosomal recessive" "10y" "OFC 42cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210277" "00139" "00275666" "00006" "Familial, autosomal recessive" "15y" "OFC 47cm; IQ 30, severe intellectual disability (HP:0010864); microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210278" "00139" "00275667" "00006" "Familial, autosomal recessive" "12y" "OFC 45cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210279" "00139" "00275668" "00006" "Familial, autosomal recessive" "13y" "OFC 46cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210280" "00139" "00275669" "00006" "Familial, autosomal recessive" "14y" "OFC 49cm; IQ 60, mild intellectual disability (HP:0001256); delayed ambulation, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000241786" "00139" "00318002" "00006" "Familial, autosomal recessive" "" "Moderate ID, speech delay, microcephaly, limbs defect" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000249920" "02495" "00331728" "03388" "Familial, autosomal recessive" "" "" "?" "11y-29y" "HP:0000252, HP:0001371, HP:0010544, HP:0001371, HP:0002194, HP:0000750, HP:0002650" "" "" "" "" "" "primary autosomal recessive microcephaly 2" "Primary microcephaly" "" "0000257017" "00139" "00361612" "00006" "Familial, autosomal recessive" "1y4m" "not syndromic; global developmental delay, spasticity, severe microcephaly, lissencephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269454" "00198" "00374244" "00006" "Familial, autosomal recessive" "" "Features indicative of Joubert syndrome." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000270091" "00198" "00374881" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000281293" "00139" "00387725" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281336" "00139" "00387768" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281368" "00139" "00387800" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000296539" "05611" "00403859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000323884" "05421" "00433363" "00006" "Familial, autosomal recessive" "26y" "primary microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323885" "05421" "00433364" "00006" "Familial, autosomal recessive" "6y" "primary microcephaly; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323886" "05421" "00433365" "00006" "Familial, autosomal recessive" "13y" "primary microcephaly; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323887" "05421" "00433366" "00006" "Familial, autosomal recessive" "13y" "primary microcephaly; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323888" "05421" "00433367" "00006" "Familial, autosomal recessive" "28y" "severe primary microcephaly, hearing deficiency; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323889" "05421" "00433368" "00006" "Familial, autosomal recessive" "5y6" "primary microcephaly; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323890" "05421" "00433369" "00006" "Familial, autosomal recessive" "9y" "primary microcephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000324178" "05421" "00433756" "00006" "Familial, autosomal recessive" "" "microcephaly; muscular dystrophy (one patient), unable to speak clearly, no self-care ability, history of seizure (one patient)" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324179" "05421" "00433757" "00006" "Familial, autosomal recessive" "" "microcephaly; some members alopecia, goiter" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324180" "05421" "00433758" "00006" "Familial, autosomal recessive" "" "microcephaly; cannot read; no self-care" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324181" "05421" "00433759" "00006" "Familial, autosomal recessive" "" "microcephaly" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324182" "05421" "00433760" "00006" "Familial, autosomal recessive" "" "microcephaly; occasional epileptic shocks, no self-care ability skills, self-injurious, aggressive behavior, history of seizures" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324330" "05421" "00433952" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-5 to -9; not able to speak, profound intellectual disability, no self-care skills, normal height, no epilepsy" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324351" "05421" "00433973" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-10 to -9; profpund intellectual disability; epilepsy, strabismus, club foot" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324361" "05421" "00433983" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-11 to -5.6; severe intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000324370" "05421" "00433992" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-14 to -13; moderate intellectual disability; epilepsy" "" "" "" "" "" "" "" "" "MCPH2" "microcephaly" "" "0000351147" "00139" "00465600" "04851" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Severe Intellectual Disability" "" "0000354665" "00198" "00469512" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000145472" "00144615" "0" "01807" "01807" "2017-12-18 12:53:45" "" "" "SEQ" "DNA" "" "" "0000150993" "00150138" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000156175" "00155311" "1" "00006" "00006" "2018-03-23 11:11:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271036" "00269883" "1" "01807" "01807" "2019-12-10 12:31:33" "" "" "SEQ" "DNA" "" "" "0000276810" "00275652" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276811" "00275653" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276812" "00275654" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276813" "00275655" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276824" "00275666" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276825" "00275667" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276826" "00275668" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276827" "00275669" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000319184" "00318002" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332947" "00331728" "1" "03388" "03388" "2021-02-13 08:20:18" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000362840" "00361612" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000375438" "00374244" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376075" "00374881" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000388956" "00387725" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000388999" "00387768" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389031" "00387800" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405097" "00403859" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000434817" "00433363" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434818" "00433364" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434819" "00433365" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434820" "00433366" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434821" "00433367" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434822" "00433368" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434823" "00433369" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000435218" "00433756" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435219" "00433757" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435220" "00433758" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435221" "00433759" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435222" "00433760" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435415" "00433952" "1" "00006" "00006" "2023-03-16 11:51:24" "00006" "2023-03-16 12:20:58" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000435436" "00433973" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435446" "00433983" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435455" "00433992" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000467248" "00465600" "1" "04851" "04851" "2025-05-22 17:15:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000471180" "00469512" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000150993" "WDR62" "0000156175" "S1PR2" "0000276810" "WDR62" "0000276811" "WDR62" "0000276812" "WDR62" "0000276813" "WDR62" "0000276824" "CYB5R3" "0000276824" "WDR62" "0000276825" "CYB5R3" "0000276825" "WDR62" "0000276826" "CYB5R3" "0000276826" "WDR62" "0000276827" "CYB5R3" "0000276827" "WDR62" "0000319184" "WDR62" "0000332947" "WDR62" "0000362840" "WDR62" "0000375438" "CEP290" "0000376075" "WDR62" "0000388956" "WDR62" "0000388999" "WDR62" "0000389031" "WDR62" "0000435218" "WDR62" "0000435219" "WDR62" "0000435220" "WDR62" "0000435221" "WDR62" "0000435222" "WDR62" "0000435415" "WDR62" "0000435436" "WDR62" "0000435446" "WDR62" "0000435455" "WDR62" "0000467248" "WDR62" ## 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 = 178 "{{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}}" "0000013813" "3" "50" "19" "36581977" "36581977" "subst" "0" "00037" "WDR62_000003" "g.36581977C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36091075C>T" "" "VUS" "" "0000013814" "0" "50" "19" "36581987" "36581987" "subst" "0" "00037" "WDR62_000001" "g.36581987T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36091085T>A" "" "VUS" "" "0000013815" "0" "50" "19" "36581987" "36581987" "subst" "0" "00037" "WDR62_000002" "g.36581987T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36091085T>C" "" "VUS" "" "0000237844" "3" "50" "19" "36557279" "36557279" "subst" "0" "01807" "WDR62_000004" "g.36557279G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.36066377G>A" "" "VUS" "" "0000244149" "3" "90" "19" "36595471" "36595474" "del" "0" "00006" "WDR62_000005" "g.36595471_36595474del" "" "{PMID:Karaca 2015:26539891}" "" "NM_173636: c.4190_4193del; p.1397_1398del" "" "Germline" "" "" "0" "" "" "g.36104569_36104572del" "" "pathogenic" "" "0000247992" "0" "10" "19" "36595436" "36595436" "subst" "0.750488" "02325" "WDR62_000059" "g.36595436A>C" "" "" "" "WDR62(NM_001083961.1):c.4170A>C (p.L1390F), WDR62(NM_001083961.2):c.4170A>C (p.L1390F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104534A>C" "" "benign" "" "0000248001" "0" "10" "19" "36594659" "36594659" "subst" "0.657023" "02325" "WDR62_000056" "g.36594659A>T" "" "" "" "WDR62(NM_001083961.1):c.3929A>T (p.Q1310L), WDR62(NM_001083961.2):c.3929A>T (p.Q1310L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103757A>T" "" "benign" "" "0000249465" "0" "30" "19" "36593882" "36593882" "subst" "5.28674E-5" "02325" "WDR62_000049" "g.36593882A>C" "" "" "" "WDR62(NM_001083961.2):c.3368A>C (p.Q1123P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36102980A>C" "" "likely benign" "" "0000253253" "0" "10" "19" "36595436" "36595436" "subst" "0.750488" "01943" "WDR62_000059" "g.36595436A>C" "" "" "" "WDR62(NM_001083961.1):c.4170A>C (p.L1390F), WDR62(NM_001083961.2):c.4170A>C (p.L1390F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104534A>C" "" "benign" "" "0000253262" "0" "10" "19" "36594659" "36594659" "subst" "0.657023" "01943" "WDR62_000056" "g.36594659A>T" "" "" "" "WDR62(NM_001083961.1):c.3929A>T (p.Q1310L), WDR62(NM_001083961.2):c.3929A>T (p.Q1310L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103757A>T" "" "benign" "" "0000253587" "0" "10" "19" "36558896" "36558896" "subst" "0.00110746" "01943" "WDR62_000076" "g.36558896A>G" "" "" "" "WDR62(NM_001083961.1):c.866A>G (p.K289R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067994A>G" "" "benign" "" "0000253598" "0" "10" "19" "36583692" "36583692" "subst" "0.00514265" "01943" "WDR62_000031" "g.36583692A>G" "" "" "" "WDR62(NM_001083961.1):c.2312A>G (p.K771R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36092790A>G" "" "benign" "" "0000254474" "0" "30" "19" "36592610" "36592610" "subst" "0" "01943" "WDR62_000044" "g.36592610A>C" "" "" "" "WDR62(NM_001083961.1):c.3016A>C (p.I1006L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101708A>C" "" "likely benign" "" "0000254892" "0" "30" "19" "36593882" "36593882" "subst" "0" "01943" "WDR62_000050" "g.36593882A>G" "" "" "" "WDR62(NM_001083961.1):c.3368A>G (p.Q1123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36102980A>G" "" "likely benign" "" "0000255325" "0" "30" "19" "36549785" "36549785" "del" "0" "01943" "WDR62_000011" "g.36549785del" "" "" "" "WDR62(NM_001083961.1):c.269+12delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36058883del" "" "likely benign" "" "0000255883" "0" "50" "19" "36564369" "36564369" "subst" "1.21863E-5" "01943" "WDR62_000018" "g.36564369A>G" "" "" "" "WDR62(NM_001083961.1):c.1169A>G (p.D390G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36073467A>G" "" "VUS" "" "0000313065" "0" "10" "19" "36546015" "36546015" "subst" "0.00723383" "02325" "WDR62_000007" "g.36546015C>T" "" "" "" "WDR62(NM_001083961.1):c.142C>T (p.L48F, p.(Leu48Phe)), WDR62(NM_001083961.2):c.142C>T (p.L48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36055113C>T" "" "benign" "" "0000313066" "0" "10" "19" "36590329" "36590329" "subst" "0.646961" "02325" "WDR62_000035" "g.36590329T>C" "" "" "" "WDR62(NM_001083961.1):c.2549T>C (p.L850S), WDR62(NM_001083961.2):c.2549T>C (p.L850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36099427T>C" "" "benign" "" "0000313067" "0" "30" "19" "36592551" "36592551" "subst" "0" "02325" "WDR62_000040" "g.36592551G>A" "" "" "" "WDR62(NM_001083961.1):c.2972-15G>A, WDR62(NM_001083961.2):c.2972-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101649G>A" "" "likely benign" "" "0000313068" "0" "10" "19" "36592585" "36592585" "subst" "0.0122808" "02325" "WDR62_000043" "g.36592585C>T" "" "" "" "WDR62(NM_001083961.1):c.2991C>T (p.A997=), WDR62(NM_001083961.2):c.2991C>T (p.A997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101683C>T" "" "benign" "" "0000313069" "0" "10" "19" "36558712" "36558712" "subst" "0.281045" "02325" "WDR62_000015" "g.36558712C>T" "" "" "" "WDR62(NM_001083961.1):c.700-18C>T, WDR62(NM_001083961.2):c.700-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067810C>T" "" "benign" "" "0000319861" "0" "50" "19" "36595942" "36595955" "del" "0" "01943" "WDR62_000065" "g.36595942_36595955del" "" "" "" "WDR62(NM_001083961.1):c.*12_*25delCTCCACCGCAGCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36105040_36105053del" "" "VUS" "" "0000319862" "0" "10" "19" "36564446" "36564446" "subst" "0" "01943" "WDR62_000019" "g.36564446C>T" "" "" "" "WDR62(NM_001083961.1):c.1233+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36073544C>T" "" "benign" "" "0000319863" "0" "10" "19" "36572484" "36572484" "subst" "0" "01943" "WDR62_000020" "g.36572484C>T" "" "" "" "WDR62(NM_001083961.1):c.1371+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36081582C>T" "" "benign" "" "0000319864" "0" "30" "19" "36574018" "36574018" "subst" "0" "01943" "WDR62_000021" "g.36574018G>A" "" "" "" "WDR62(NM_001083961.1):c.1425G>A (p.M475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36083116G>A" "" "likely benign" "" "0000319865" "0" "30" "19" "36546015" "36546015" "subst" "0.00723383" "01943" "WDR62_000007" "g.36546015C>T" "" "" "" "WDR62(NM_001083961.1):c.142C>T (p.L48F, p.(Leu48Phe)), WDR62(NM_001083961.2):c.142C>T (p.L48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36055113C>T" "" "likely benign" "" "0000319866" "0" "10" "19" "36575645" "36575645" "subst" "0.179438" "01943" "WDR62_000022" "g.36575645G>A" "" "" "" "WDR62(NM_001083961.1):c.1641G>A (p.T547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36084743G>A" "" "benign" "" "0000319867" "0" "30" "19" "36575654" "36575654" "subst" "0.0112059" "01943" "WDR62_000023" "g.36575654C>T" "" "" "" "WDR62(NM_001083961.1):c.1642+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36084752C>T" "" "likely benign" "" "0000319868" "0" "10" "19" "36577579" "36577579" "subst" "0.10028" "01943" "WDR62_000024" "g.36577579C>T" "" "" "" "WDR62(NM_001083961.1):c.1643-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36086677C>T" "" "benign" "" "0000319869" "0" "50" "19" "36577670" "36577670" "subst" "0" "01943" "WDR62_000025" "g.36577670C>T" "" "" "" "WDR62(NM_001083961.1):c.1724C>T (p.T575M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36086768C>T" "" "VUS" "" "0000319870" "0" "30" "19" "36579933" "36579933" "subst" "0.00018693" "01943" "WDR62_000027" "g.36579933C>T" "" "" "" "WDR62(NM_001083961.1):c.1769-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36089031C>T" "" "likely benign" "" "0000319871" "0" "10" "19" "36549684" "36549684" "subst" "0.0802403" "01943" "WDR62_000008" "g.36549684G>A" "" "" "" "WDR62(NM_001083961.1):c.180G>A (p.V60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36058782G>A" "" "benign" "" "0000319872" "0" "10" "19" "36549690" "36549690" "subst" "0.178923" "01943" "WDR62_000009" "g.36549690C>T" "" "" "" "WDR62(NM_001083961.1):c.186C>T (p.L62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36058788C>T" "" "benign" "" "0000319873" "0" "50" "19" "36580153" "36580153" "subst" "0" "01943" "WDR62_000028" "g.36580153G>C" "" "" "" "WDR62(NM_001083961.1):c.1903G>C (p.D635H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36089251G>C" "" "VUS" "" "0000319874" "0" "10" "19" "36583651" "36583651" "subst" "0.10447" "01943" "WDR62_000029" "g.36583651G>A" "" "" "" "WDR62(NM_001083961.1):c.2271G>A (p.L757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36092749G>A" "" "benign" "" "0000319875" "0" "10" "19" "36583661" "36583661" "subst" "0.00422039" "01943" "WDR62_000030" "g.36583661C>T" "" "" "" "WDR62(NM_001083961.1):c.2281C>T (p.H761Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36092759C>T" "" "benign" "" "0000319876" "0" "10" "19" "36584904" "36584904" "subst" "0.179635" "01943" "WDR62_000032" "g.36584904C>T" "" "" "" "WDR62(NM_001083961.1):c.2334-29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36094002C>T" "" "benign" "" "0000319877" "0" "10" "19" "36585112" "36585113" "del" "0.162259" "01943" "WDR62_000034" "g.36585112_36585113del" "" "" "" "WDR62(NM_001083961.1):c.2467+46_2467+47delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36094210_36094211del" "" "benign" "" "0000319878" "0" "50" "19" "36549757" "36549757" "subst" "0.00123914" "01943" "WDR62_000010" "g.36549757G>A" "" "" "" "WDR62(NM_001083961.1):c.253G>A (p.V85M, p.(Val85Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36058855G>A" "" "VUS" "" "0000319879" "0" "10" "19" "36590329" "36590329" "subst" "0.646961" "01943" "WDR62_000035" "g.36590329T>C" "" "" "" "WDR62(NM_001083961.1):c.2549T>C (p.L850S), WDR62(NM_001083961.2):c.2549T>C (p.L850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36099427T>C" "" "benign" "" "0000319880" "0" "30" "19" "36590385" "36590385" "subst" "2.84937E-5" "01943" "WDR62_000036" "g.36590385G>A" "" "" "" "WDR62(NM_001083961.1):c.2605G>A (p.G869S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36099483G>A" "" "likely benign" "" "0000319881" "0" "30" "19" "36592143" "36592143" "subst" "0" "01943" "WDR62_000039" "g.36592143C>T" "" "" "" "WDR62(NM_001083961.1):c.2895C>T (p.A965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101241C>T" "" "likely benign" "" "0000319882" "0" "30" "19" "36592551" "36592551" "subst" "0" "01943" "WDR62_000040" "g.36592551G>A" "" "" "" "WDR62(NM_001083961.1):c.2972-15G>A, WDR62(NM_001083961.2):c.2972-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101649G>A" "" "likely benign" "" "0000319883" "0" "30" "19" "36592569" "36592569" "subst" "0.00223151" "01943" "WDR62_000042" "g.36592569C>T" "" "" "" "WDR62(NM_001083961.1):c.2975C>T (p.S992L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101667C>T" "" "likely benign" "" "0000319884" "0" "30" "19" "36592585" "36592585" "subst" "0.0122808" "01943" "WDR62_000043" "g.36592585C>T" "" "" "" "WDR62(NM_001083961.1):c.2991C>T (p.A997=), WDR62(NM_001083961.2):c.2991C>T (p.A997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101683C>T" "" "likely benign" "" "0000319885" "0" "30" "19" "36592627" "36592627" "subst" "0.00414718" "01943" "WDR62_000045" "g.36592627G>A" "" "" "" "WDR62(NM_001083961.1):c.3033G>A (p.P1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36101725G>A" "" "likely benign" "" "0000319886" "0" "30" "19" "36593649" "36593649" "subst" "0.00235566" "01943" "WDR62_000046" "g.36593649C>T" "" "" "" "WDR62(NM_001083961.1):c.3231C>T (p.P1077=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36102747C>T" "" "likely benign" "" "0000319887" "0" "30" "19" "36593665" "36593665" "subst" "3.65479E-5" "01943" "WDR62_000047" "g.36593665G>A" "" "" "" "WDR62(NM_001083961.1):c.3247G>A (p.V1083M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36102763G>A" "" "likely benign" "" "0000319888" "0" "30" "19" "36593845" "36593845" "subst" "0" "01943" "WDR62_000048" "g.36593845C>T" "" "" "" "WDR62(NM_001083961.1):c.3336-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36102943C>T" "" "likely benign" "" "0000319889" "0" "10" "19" "36593915" "36593915" "subst" "0.045717" "01943" "WDR62_000051" "g.36593915T>G" "" "" "" "WDR62(NM_001083961.1):c.3401T>G (p.M1134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103013T>G" "" "benign" "" "0000319890" "0" "10" "19" "36594063" "36594063" "subst" "0.103728" "01943" "WDR62_000052" "g.36594063C>T" "" "" "" "WDR62(NM_001083961.1):c.3468C>T (p.L1156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103161C>T" "" "benign" "" "0000319891" "0" "30" "19" "36594288" "36594288" "subst" "2.03113E-5" "01943" "WDR62_000053" "g.36594288C>T" "" "" "" "WDR62(NM_001083961.1):c.3558C>T (p.S1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103386C>T" "" "likely benign" "" "0000319892" "0" "10" "19" "36594404" "36594404" "subst" "0.00520338" "01943" "WDR62_000054" "g.36594404G>A" "" "" "" "WDR62(NM_001083961.1):c.3674G>A (p.R1225H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103502G>A" "" "benign" "" "0000319893" "0" "30" "19" "36594676" "36594676" "subst" "0.0040304" "01943" "WDR62_000057" "g.36594676C>G" "" "" "" "WDR62(NM_001083961.1):c.3946C>G (p.Q1316E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103774C>G" "" "likely benign" "" "0000319894" "0" "10" "19" "36594853" "36594853" "subst" "0.0381696" "01943" "WDR62_000058" "g.36594853G>A" "" "" "" "WDR62(NM_001083961.1):c.4123G>A (p.G1375S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103951G>A" "" "benign" "" "0000319895" "0" "30" "19" "36595562" "36595562" "subst" "9.74833E-5" "01943" "WDR62_000060" "g.36595562C>T" "" "" "" "WDR62(NM_001083961.1):c.4296C>T (p.L1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104660C>T" "" "likely benign" "" "0000319896" "0" "50" "19" "36595665" "36595665" "subst" "0.00210425" "01943" "WDR62_000061" "g.36595665T>G" "" "" "" "WDR62(NM_001083961.1):c.4312-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104763T>G" "" "VUS" "" "0000319897" "0" "30" "19" "36595687" "36595687" "subst" "2.04365E-5" "01943" "WDR62_000062" "g.36595687G>A" "" "" "" "WDR62(NM_001083961.1):c.4329G>A (p.Q1443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104785G>A" "" "likely benign" "" "0000319898" "0" "30" "19" "36595696" "36595696" "subst" "0.000372286" "01943" "WDR62_000063" "g.36595696C>T" "" "" "" "WDR62(NM_001083961.1):c.4338C>T (p.T1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104794C>T" "" "likely benign" "" "0000319899" "0" "30" "19" "36595885" "36595885" "subst" "0.000126935" "01943" "WDR62_000064" "g.36595885G>A" "" "" "" "WDR62(NM_001083961.1):c.4527G>A (p.S1509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104983G>A" "" "likely benign" "" "0000319900" "0" "10" "19" "36558195" "36558195" "subst" "0.0460888" "01943" "WDR62_000014" "g.36558195C>T" "" "" "" "WDR62(NM_001083961.1):c.562-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067293C>T" "" "benign" "" "0000319901" "0" "10" "19" "36558712" "36558712" "subst" "0.281045" "01943" "WDR62_000015" "g.36558712C>T" "" "" "" "WDR62(NM_001083961.1):c.700-18C>T, WDR62(NM_001083961.2):c.700-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067810C>T" "" "benign" "" "0000326392" "0" "50" "19" "36557265" "36557265" "subst" "4.48463E-5" "01804" "WDR62_000013" "g.36557265A>G" "" "" "" "WDR62(NM_001083961.1):c.497A>G (p.(Asn166Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36066363A>G" "" "VUS" "" "0000326393" "0" "30" "19" "36558794" "36558796" "del" "0" "01804" "WDR62_000016" "g.36558794_36558796del" "" "" "" "WDR62(NM_001083961.1):c.761_763del (p.(Phe255del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067892_36067894del" "" "likely benign" "" "0000326394" "0" "50" "19" "36562513" "36562513" "subst" "0" "01804" "WDR62_000017" "g.36562513C>A" "" "" "" "WDR62(NM_001083961.1):c.938C>A (p.(Thr313Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36071611C>A" "" "VUS" "" "0000326395" "0" "50" "19" "36577688" "36577688" "subst" "1.6796E-5" "01804" "WDR62_000026" "g.36577688C>T" "" "" "" "WDR62(NM_001083961.1):c.1742C>T (p.(Ser581Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36086786C>T" "" "VUS" "" "0000326397" "0" "50" "19" "36590393" "36590393" "subst" "1.62694E-5" "01804" "WDR62_000037" "g.36590393G>C" "" "" "" "WDR62(NM_001083961.1):c.2613G>C (p.(Glu871Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36099491G>C" "" "VUS" "" "0000326400" "0" "50" "19" "36594608" "36594608" "subst" "4.10388E-6" "01804" "WDR62_000055" "g.36594608C>A" "" "" "" "WDR62(NM_001083961.1):c.3878C>A (p.(Ala1293Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103706C>A" "" "VUS" "" "0000337863" "0" "10" "19" "36558195" "36558195" "subst" "0.0460888" "02327" "WDR62_000014" "g.36558195C>T" "" "" "" "WDR62(NM_001083961.1):c.562-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067293C>T" "" "benign" "" "0000337864" "0" "10" "19" "36564446" "36564446" "subst" "0" "02327" "WDR62_000019" "g.36564446C>T" "" "" "" "WDR62(NM_001083961.1):c.1233+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36073544C>T" "" "benign" "" "0000337865" "0" "10" "19" "36577732" "36577732" "subst" "0.000562381" "02327" "WDR62_000069" "g.36577732C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36086830C>T" "" "benign" "" "0000339914" "0" "10" "19" "36549684" "36549684" "subst" "0.0802403" "02327" "WDR62_000008" "g.36549684G>A" "" "" "" "WDR62(NM_001083961.1):c.180G>A (p.V60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36058782G>A" "" "benign" "" "0000339915" "0" "10" "19" "36549690" "36549690" "subst" "0.178923" "02327" "WDR62_000009" "g.36549690C>T" "" "" "" "WDR62(NM_001083961.1):c.186C>T (p.L62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36058788C>T" "" "benign" "" "0000339916" "0" "10" "19" "36574063" "36574063" "subst" "0.102886" "02327" "WDR62_000068" "g.36574063C>T" "" "" "" "WDR62(NM_001083961.1):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36083161C>T" "" "benign" "" "0000339917" "0" "10" "19" "36575645" "36575645" "subst" "0.179438" "02327" "WDR62_000022" "g.36575645G>A" "" "" "" "WDR62(NM_001083961.1):c.1641G>A (p.T547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36084743G>A" "" "benign" "" "0000339918" "0" "10" "19" "36594063" "36594063" "subst" "0.103728" "02327" "WDR62_000052" "g.36594063C>T" "" "" "" "WDR62(NM_001083961.1):c.3468C>T (p.L1156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103161C>T" "" "benign" "" "0000339919" "0" "10" "19" "36594369" "36594369" "subst" "0.0433303" "02327" "WDR62_000073" "g.36594369C>T" "" "" "" "WDR62(NM_001083961.1):c.3639C>T (p.S1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103467C>T" "" "benign" "" "0000340782" "0" "50" "19" "36558774" "36558774" "subst" "0.00044698" "02327" "WDR62_000066" "g.36558774C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067872C>T" "" "VUS" "" "0000341144" "0" "10" "19" "36594542" "36594542" "subst" "0.00284086" "02327" "WDR62_000074" "g.36594542C>T" "" "" "" "WDR62(NM_001083961.1):c.3812C>T (p.A1271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103640C>T" "" "benign" "" "0000344536" "0" "10" "19" "36594659" "36594659" "subst" "0.657023" "02327" "WDR62_000056" "g.36594659A>T" "" "" "" "WDR62(NM_001083961.1):c.3929A>T (p.Q1310L), WDR62(NM_001083961.2):c.3929A>T (p.Q1310L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103757A>T" "" "benign" "" "0000345708" "0" "10" "19" "36594853" "36594853" "subst" "0.0381696" "02327" "WDR62_000058" "g.36594853G>A" "" "" "" "WDR62(NM_001083961.1):c.4123G>A (p.G1375S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103951G>A" "" "benign" "" "0000346886" "0" "10" "19" "36595436" "36595436" "subst" "0.750488" "02327" "WDR62_000059" "g.36595436A>C" "" "" "" "WDR62(NM_001083961.1):c.4170A>C (p.L1390F), WDR62(NM_001083961.2):c.4170A>C (p.L1390F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104534A>C" "" "benign" "" "0000347299" "0" "10" "19" "36583651" "36583651" "subst" "0.10447" "02327" "WDR62_000029" "g.36583651G>A" "" "" "" "WDR62(NM_001083961.1):c.2271G>A (p.L757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36092749G>A" "" "benign" "" "0000347730" "0" "10" "19" "36593915" "36593915" "subst" "0.045717" "02327" "WDR62_000051" "g.36593915T>G" "" "" "" "WDR62(NM_001083961.1):c.3401T>G (p.M1134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36103013T>G" "" "benign" "" "0000349628" "0" "50" "19" "36584942" "36584942" "subst" "3.6545E-5" "02327" "WDR62_000071" "g.36584942G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36094040G>A" "" "VUS" "" "0000350750" "0" "70" "19" "36582214" "36582214" "subst" "0" "02327" "WDR62_000070" "g.36582214G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36091312G>A" "" "likely pathogenic" "" "0000351132" "0" "10" "19" "36558712" "36558712" "subst" "0.281045" "02327" "WDR62_000015" "g.36558712C>T" "" "" "" "WDR62(NM_001083961.1):c.700-18C>T, WDR62(NM_001083961.2):c.700-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36067810C>T" "" "benign" "" "0000351133" "0" "10" "19" "36577579" "36577579" "subst" "0.10028" "02327" "WDR62_000024" "g.36577579C>T" "" "" "" "WDR62(NM_001083961.1):c.1643-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36086677C>T" "" "benign" "" "0000351134" "0" "10" "19" "36590329" "36590329" "subst" "0.646961" "02327" "WDR62_000035" "g.36590329T>C" "" "" "" "WDR62(NM_001083961.1):c.2549T>C (p.L850S), WDR62(NM_001083961.2):c.2549T>C (p.L850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36099427T>C" "" "benign" "" "0000351135" "0" "50" "19" "36595665" "36595665" "subst" "0.00210425" "02327" "WDR62_000061" "g.36595665T>G" "" "" "" "WDR62(NM_001083961.1):c.4312-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104763T>G" "" "VUS" "" "0000358096" "3" "30" "19" "36558235" "36558235" "subst" "0.000203148" "00006" "WDR62_000075" "g.36558235G>A" "" "{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}" "" "" "" "Germline" "no" "" "0" "" "" "g.36067333G>A" "" "likely benign" "" "0000567050" "0" "30" "19" "36545975" "36545975" "subst" "2.05876E-5" "01943" "WDR62_000077" "g.36545975G>C" "" "" "" "WDR62(NM_001083961.1):c.102G>C (p.P34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36055073G>C" "" "likely benign" "" "0000567052" "0" "30" "19" "36546015" "36546015" "subst" "0.00723383" "01804" "WDR62_000007" "g.36546015C>T" "" "" "" "WDR62(NM_001083961.1):c.142C>T (p.L48F, p.(Leu48Phe)), WDR62(NM_001083961.2):c.142C>T (p.L48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36055113C>T" "" "likely benign" "" "0000567053" "0" "30" "19" "36549757" "36549757" "subst" "0.00123914" "01804" "WDR62_000010" "g.36549757G>A" "" "" "" "WDR62(NM_001083961.1):c.253G>A (p.V85M, p.(Val85Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36058855G>A" "" "likely benign" "" "0000567054" "0" "30" "19" "36558306" "36558306" "subst" "1.21839E-5" "01943" "WDR62_000079" "g.36558306T>C" "" "" "" "WDR62(NM_001083961.1):c.660T>C (p.H220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36067404T>C" "" "likely benign" "" "0000567055" "0" "50" "19" "36562621" "36562621" "subst" "3.67197E-5" "01943" "WDR62_000080" "g.36562621A>G" "" "" "" "WDR62(NM_001083961.1):c.1043+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36071719A>G" "" "VUS" "" "0000567056" "0" "30" "19" "36564418" "36564418" "subst" "2.86203E-5" "01943" "WDR62_000081" "g.36564418C>T" "" "" "" "WDR62(NM_001083961.1):c.1218C>T (p.Y406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36073516C>T" "" "likely benign" "" "0000567058" "0" "10" "19" "36574063" "36574063" "subst" "0.102886" "01943" "WDR62_000068" "g.36574063C>T" "" "" "" "WDR62(NM_001083961.1):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36083161C>T" "" "benign" "" "0000567059" "0" "30" "19" "36575654" "36575654" "subst" "0.0112059" "01804" "WDR62_000023" "g.36575654C>T" "" "" "" "WDR62(NM_001083961.1):c.1642+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36084752C>T" "" "likely benign" "" "0000567061" "0" "30" "19" "36581375" "36581375" "subst" "0" "01804" "WDR62_000084" "g.36581375A>C" "" "" "" "WDR62(NM_001083961.1):c.1987A>C (p.(Lys663Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36090473A>C" "" "likely benign" "" "0000567063" "0" "10" "19" "36584927" "36584927" "subst" "0.00103546" "01943" "WDR62_000085" "g.36584927C>A" "" "" "" "WDR62(NM_001083961.1):c.2334-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36094025C>A" "" "benign" "" "0000567065" "0" "30" "19" "36592660" "36592660" "subst" "0" "01943" "WDR62_000086" "g.36592660G>A" "" "" "" "WDR62(NM_001083961.1):c.3066G>A (p.S1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36101758G>A" "" "likely benign" "" "0000567067" "0" "10" "19" "36594369" "36594369" "subst" "0.0433303" "01943" "WDR62_000073" "g.36594369C>T" "" "" "" "WDR62(NM_001083961.1):c.3639C>T (p.S1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36103467C>T" "" "benign" "" "0000567068" "0" "30" "19" "36594542" "36594542" "subst" "0.00284086" "01943" "WDR62_000074" "g.36594542C>T" "" "" "" "WDR62(NM_001083961.1):c.3812C>T (p.A1271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36103640C>T" "" "likely benign" "" "0000567070" "0" "30" "19" "36595475" "36595475" "subst" "2.43716E-5" "01943" "WDR62_000088" "g.36595475G>A" "" "" "" "WDR62(NM_001083961.1):c.4209G>A (p.P1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36104573G>A" "" "likely benign" "" "0000567071" "0" "50" "19" "36595930" "36595930" "subst" "0" "01943" "WDR62_000089" "g.36595930A>C" "" "" "" "WDR62(NM_001083961.1):c.4572A>C (p.*1524Cext*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36105028A>C" "" "VUS" "" "0000617562" "0" "90" "19" "36579993" "36579993" "del" "0" "02327" "WDR62_000090" "g.36579993del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36089091del" "" "pathogenic" "" "0000617563" "0" "50" "19" "36580123" "36580123" "subst" "1.21855E-5" "01943" "WDR62_000091" "g.36580123G>A" "" "" "" "WDR62(NM_001083961.1):c.1873G>A (p.V625I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36089221G>A" "" "VUS" "" "0000617564" "0" "50" "19" "36585017" "36585017" "subst" "0.000101514" "01943" "WDR62_000092" "g.36585017T>G" "" "" "" "WDR62(NM_001083961.1):c.2418T>G (p.C806W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36094115T>G" "" "VUS" "" "0000623987" "0" "30" "19" "36593925" "36593925" "subst" "4.06534E-6" "01943" "WDR62_000093" "g.36593925C>A" "" "" "" "WDR62(NM_001083961.1):c.3411C>A (p.G1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36103023C>A" "" "likely benign" "" "0000624884" "3" "90" "19" "36587969" "36587969" "subst" "0" "01807" "WDR62_000094" "g.36587969G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.36097067G>A" "" "pathogenic" "" "0000630949" "3" "90" "19" "36593875" "36593875" "del" "0" "00006" "WDR62_000096" "g.36593875del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "3359delG" "" "Germline" "" "" "0" "" "" "g.36102973del" "" "pathogenic (recessive)" "" "0000630950" "3" "90" "19" "36593875" "36593875" "del" "0" "00006" "WDR62_000096" "g.36593875del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "3359delG" "" "Germline" "" "" "0" "" "" "g.36102973del" "" "pathogenic (recessive)" "" "0000630951" "3" "90" "19" "36593875" "36593875" "del" "0" "00006" "WDR62_000096" "g.36593875del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "3359delG" "" "Germline" "" "" "0" "" "" "g.36102973del" "" "pathogenic (recessive)" "" "0000630952" "3" "90" "19" "36593875" "36593875" "del" "0" "00006" "WDR62_000096" "g.36593875del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "3359delG" "" "Germline" "" "" "0" "" "" "g.36102973del" "" "pathogenic (recessive)" "" "0000630963" "3" "90" "19" "36587986" "36587986" "subst" "4.08313E-6" "00006" "WDR62_000095" "g.36587986G>T" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.36097084G>T" "" "pathogenic (recessive)" "" "0000630964" "0" "90" "19" "36587986" "36587986" "subst" "4.08313E-6" "00006" "WDR62_000095" "g.36587986G>T" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.36097084G>T" "" "pathogenic (recessive)" "" "0000630965" "0" "90" "19" "36587986" "36587986" "subst" "4.08313E-6" "00006" "WDR62_000095" "g.36587986G>T" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.36097084G>T" "" "pathogenic (recessive)" "" "0000630966" "1" "90" "19" "36587986" "36587986" "subst" "4.08313E-6" "00006" "WDR62_000095" "g.36587986G>T" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.36097084G>T" "" "pathogenic (recessive)" "" "0000658551" "0" "90" "19" "36587969" "36587969" "subst" "0" "02325" "WDR62_000094" "g.36587969G>A" "" "" "" "WDR62(NM_001083961.2):c.2508G>A (p.W836*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36097067G>A" "" "pathogenic" "" "0000658552" "0" "30" "19" "36594516" "36594516" "subst" "0.000330869" "01943" "WDR62_000097" "g.36594516C>T" "" "" "" "WDR62(NM_001083961.1):c.3786C>T (p.G1262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36103614C>T" "" "likely benign" "" "0000681389" "0" "30" "19" "36590340" "36590340" "subst" "6.15951E-5" "01943" "WDR62_000098" "g.36590340G>A" "" "" "" "WDR62(NM_001083961.1):c.2560G>A (p.A854T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681390" "0" "50" "19" "36595755" "36595755" "subst" "0" "01943" "WDR62_000099" "g.36595755T>A" "" "" "" "WDR62(NM_001083961.1):c.4397T>A (p.L1466Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692773" "0" "90" "19" "36595703" "36595703" "subst" "0" "01943" "WDR62_000100" "g.36595703C>T" "" "" "" "WDR62(NM_001083961.1):c.4345C>T (p.Q1449*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000701848" "3" "70" "19" "36587982" "36587982" "subst" "0" "00006" "WDR62_000101" "g.36587982G>T" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.36097080G>T" "" "likely pathogenic (recessive)" "" "0000727294" "0" "70" "19" "36546014" "36546014" "dup" "0" "02329" "WDR62_000078" "g.36546014dup" "" "" "" "WDR62(NM_001083961.2):c.141dupA (p.L48Tfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727295" "0" "50" "19" "36593650" "36593650" "subst" "8.12229E-5" "01943" "WDR62_000103" "g.36593650G>A" "" "" "" "WDR62(NM_001083961.1):c.3232G>A (p.A1078T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727296" "0" "90" "19" "36593722" "36593722" "subst" "8.1215E-6" "01943" "WDR62_000104" "g.36593722C>T" "" "" "" "WDR62(NM_001083961.1):c.3304C>T (p.Q1102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730334" "3" "50" "19" "36575602" "36575602" "subst" "0" "03388" "WDR62_000102" "g.36575602A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000763214" "3" "70" "19" "36592606" "36592628" "dup" "0" "00006" "WDR62_000072" "g.36592606_36592628dup" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.36101704_36101726dup" "" "likely pathogenic" "ACMG" "0000787426" "3" "50" "19" "36582367" "36582367" "subst" "0" "00006" "WDR62_000106" "g.36582367G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.36091465G>C" "" "VUS" "" "0000787456" "3" "70" "19" "36581345" "36581345" "subst" "4.06095E-6" "00000" "WDR62_000105" "g.36581345A>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.36090443A>G" "" "likely pathogenic" "" "0000808833" "0" "50" "19" "36580009" "36580009" "subst" "0" "01943" "WDR62_000107" "g.36580009T>G" "" "" "" "WDR62(NM_001083961.1):c.1836+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808834" "0" "30" "19" "36583587" "36583587" "subst" "0.000515891" "02325" "WDR62_000108" "g.36583587G>A" "" "" "" "WDR62(NM_001083961.2):c.2211-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808835" "0" "50" "19" "36595474" "36595474" "subst" "8.12381E-6" "02325" "WDR62_000109" "g.36595474C>T" "" "" "" "WDR62(NM_001083961.2):c.4208C>T (p.P1403L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817749" "3" "70" "19" "36575602" "36575602" "subst" "0" "00006" "WDR62_000102" "g.36575602A>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.36084700A>G" "" "likely pathogenic (recessive)" "ACMG" "0000817792" "3" "90" "19" "36546051" "36546051" "subst" "0" "00006" "WDR62_000110" "g.36546051G>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.36055149G>T" "" "pathogenic (recessive)" "ACMG" "0000817824" "3" "90" "19" "36594088" "36594089" "del" "0" "00006" "WDR62_000111" "g.36594088_36594089del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.36103186_36103187del" "" "pathogenic (recessive)" "ACMG" "0000841158" "3" "90" "19" "36587969" "36587969" "subst" "0" "00006" "WDR62_000094" "g.36587969G>A" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.36097067G>A" "" "pathogenic (recessive)" "" "0000866046" "0" "30" "19" "36558216" "36558216" "subst" "4.06511E-6" "01943" "WDR62_000112" "g.36558216C>T" "" "" "" "WDR62(NM_001083961.1):c.570C>T (p.I190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866047" "0" "30" "19" "36572471" "36572471" "subst" "0" "01943" "WDR62_000113" "g.36572471A>G" "" "" "" "WDR62(NM_001083961.1):c.1370A>G (p.N457S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866048" "0" "50" "19" "36592566" "36592566" "subst" "0.000108821" "01943" "WDR62_000114" "g.36592566A>T" "" "" "" "WDR62(NM_001083961.1):c.2972A>T (p.D991V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915208" "0" "50" "19" "36558235" "36558235" "subst" "0.000203148" "02325" "WDR62_000075" "g.36558235G>A" "" "" "" "WDR62(NM_001083961.2):c.589G>A (p.V197I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920694" "1" "70" "19" "36574124" "36574124" "subst" "0" "00006" "WDR62_000123" "g.36574124G>A" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36083222G>A" "" "likely pathogenic (recessive)" "" "0000920695" "1" "90" "19" "36574124" "36574124" "subst" "0" "00006" "WDR62_000123" "g.36574124G>A" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36083222G>A" "" "pathogenic (recessive)" "" "0000920696" "3" "70" "19" "36574119" "36574119" "subst" "0" "00006" "WDR62_000122" "g.36574119C>T" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36083217C>T" "" "likely pathogenic (recessive)" "" "0000920697" "3" "90" "19" "36562621" "36562621" "subst" "3.67197E-5" "00006" "WDR62_000080" "g.36562621A>G" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36071719A>G" "" "pathogenic (recessive)" "" "0000920698" "1" "90" "19" "36562621" "36562621" "subst" "3.67197E-5" "00006" "WDR62_000080" "g.36562621A>G" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36071719A>G" "" "pathogenic (recessive)" "" "0000920699" "1" "90" "19" "36574114" "36574114" "subst" "1.29067E-5" "00006" "WDR62_000116" "g.36574114G>A" "" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36083212G>A" "" "pathogenic (recessive)" "" "0000920700" "3" "90" "19" "36594666" "36594666" "dup" "0" "00006" "WDR62_000117" "g.36594666dup" "" "{PMID:Nicolas 2010:20890279}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36103764dup" "" "pathogenic (recessive)" "" "0000920706" "2" "70" "19" "36595703" "36595703" "subst" "0" "00006" "WDR62_000100" "g.36595703C>T" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36104801C>T" "" "likely pathogenic (recessive)" "" "0000920707" "2" "90" "19" "36594064" "36594065" "del" "0" "00006" "WDR62_000126" "g.36594064_36594065del" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36103162_36103163del" "" "pathogenic (recessive)" "" "0000920708" "2" "90" "19" "36593897" "36593915" "del" "0" "00006" "WDR62_000125" "g.36593897_36593915del" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36102995_36103013del" "" "pathogenic (recessive)" "" "0000920709" "2" "90" "19" "36591698" "36591698" "subst" "0" "00006" "WDR62_000115" "g.36591698C>T" "" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.36100796C>T" "" "pathogenic (recessive)" "" "0000921169" "3" "90" "19" "36550932" "36550932" "subst" "0" "00006" "WDR62_000118" "g.36550932G>C" "" "{PMID:Sajid Hussain 2013:22775483}, {PMID:Ahmad 2017:28004384}" "" "" "" "Germline" "" "" "0" "" "" "g.36060030G>C" "" "likely pathogenic (recessive)" "" "0000921170" "3" "90" "19" "36564394" "36564394" "subst" "1.21996E-5" "00006" "WDR62_000120" "g.36564394G>A" "" "{PMID:Sajid Hussain 2013:22775483}" "" "" "" "Germline" "" "" "0" "" "" "g.36073492G>A" "" "pathogenic (recessive)" "" "0000921171" "3" "70" "19" "36572414" "36572414" "subst" "0" "00006" "WDR62_000121" "g.36572414G>A" "" "{PMID:Sajid Hussain 2013:22775483}" "" "" "" "Germline" "" "" "0" "" "" "g.36081512G>A" "" "likely pathogenic (recessive)" "" "0000921172" "3" "90" "19" "36593875" "36593875" "del" "0" "00006" "WDR62_000096" "g.36593875del" "" "{PMID:Sajid Hussain 2013:22775483}" "" "" "" "Germline" "" "" "0" "" "" "g.36102973del" "" "pathogenic (recessive)" "" "0000921173" "3" "90" "19" "36594098" "36594098" "subst" "1.22115E-5" "00006" "WDR62_000127" "g.36594098G>A" "" "{PMID:Sajid Hussain 2013:22775483}" "" "" "" "Germline" "" "" "0" "" "" "g.36103196G>A" "" "pathogenic (recessive)" "" "0000921400" "3" "90" "19" "36550932" "36550932" "subst" "0" "00006" "WDR62_000118" "g.36550932G>C" "" "{PMID:Ahmad 2017:28004384}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36060030G>C" "" "pathogenic (recessive)" "" "0000921424" "3" "90" "19" "36590447" "36590448" "delins" "0" "00006" "WDR62_000124" "g.36590447_36590448delinsTT" "" "{PMID:Wang 2017:27784895}" "" "2667-2668GA>TT p.[M889I;K890*]" "" "Germline" "" "" "0" "" "" "g.36099545_36099546delinsTT" "" "pathogenic (recessive)" "" "0000921434" "3" "90" "19" "36561186" "36571485" "del" "0" "00006" "WDR62_000119" "g.36561186_36571485del" "" "{PMID:Wang 2017:27784895}" "" "883-1273_1237-850del" "" "Germline" "" "" "0" "" "" "g.36070284_36080583dele" "" "pathogenic (recessive)" "" "0000921443" "3" "90" "19" "36587986" "36587986" "subst" "4.08313E-6" "00006" "WDR62_000095" "g.36587986G>T" "" "{PMID:Wang 2017:27784895}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.36097084G>T" "" "pathogenic (recessive)" "" "0000983406" "0" "50" "19" "36575580" "36575580" "subst" "9.75689E-5" "01804" "WDR62_000128" "g.36575580G>A" "" "" "" "WDR62(NM_001083961.2):c.1576G>A (p.(Glu526Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983407" "0" "30" "19" "36594342" "36594342" "subst" "0.000962648" "01804" "WDR62_000129" "g.36594342C>T" "" "" "" "WDR62(NM_001083961.2):c.3612C>T (p.(Gly1204=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004670" "0" "30" "19" "36558302" "36558302" "subst" "2.0309E-5" "01804" "WDR62_000130" "g.36558302G>A" "" "" "" "WDR62(NM_173636.4):c.656G>A (p.(Arg219His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004671" "0" "70" "19" "36594304" "36594305" "del" "0" "01804" "WDR62_000131" "g.36594304_36594305del" "" "" "" "WDR62(NM_001083961.1):c.3574_3575delAG (p.(Arg1192fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015789" "0" "30" "19" "36593976" "36593976" "subst" "2.03204E-5" "02325" "WDR62_000132" "g.36593976C>T" "" "" "" "WDR62(NM_001083961.2):c.3462C>T (p.H1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027212" "0" "50" "19" "36595425" "36595425" "subst" "0.000898725" "01943" "WDR62_000133" "g.36595425C>A" "" "" "" "WDR62(NM_001083961.1):c.4159C>A (p.L1387I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042892" "0" "50" "19" "36582179" "36582179" "subst" "2.43692E-5" "01804" "WDR62_000134" "g.36582179G>A" "" "" "" "WDR62(NM_001083961.2):c.2112G>A (p.(Ser704=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042893" "0" "90" "19" "36591774" "36591777" "del" "0" "01804" "WDR62_000135" "g.36591774_36591777del" "" "" "" "WDR62(NM_001083961.2):c.2864_2867del (p.(Asp955Alafs*112))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042894" "0" "50" "19" "36595419" "36595419" "subst" "0" "01804" "WDR62_000136" "g.36595419G>C" "" "" "" "WDR62(NM_001083961.2):c.4154-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045040" "3" "90" "19" "36549754" "36549754" "dup" "0" "04851" "WDR62_000137" "g.36549754dup" "" "" "" "248_249insC" "" "Germline" "" "" "0" "" "" "g.36058852dup" "" "pathogenic (recessive)" "ACMG" "0001056616" "0" "50" "19" "36558235" "36558235" "subst" "4.06296E-6" "01804" "WDR62_000138" "g.36558235G>T" "" "" "" "WDR62(NM_001083961.2):c.589G>T (p.(Val197Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056617" "0" "50" "19" "36595884" "36595884" "subst" "9.16574E-5" "01804" "WDR62_000139" "g.36595884C>T" "" "" "" "WDR62(NM_001083961.2):c.4526C>T (p.(Ser1509Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059302" "0" "90" "19" "36575580" "36575580" "subst" "9.75689E-5" "00006" "WDR62_000128" "g.36575580G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.36084678G>A" "" "pathogenic" "" "0001067179" "0" "70" "19" "36574147" "36574147" "subst" "0" "02325" "WDR62_000140" "g.36574147A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001067180" "0" "70" "19" "36595799" "36595856" "del" "0" "02325" "WDR62_000141" "g.36595799_36595856del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 WDR62 ## Count = 178 "{{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}}" "0000013813" "00001437" "50" "2035" "-125" "2035" "-125" "c.2035-125C>T" "r.(=)" "p.(=)" "" "0000013814" "00001437" "50" "2035" "-115" "2035" "-115" "c.2035-115T>A" "r.(=)" "p.(=)" "" "0000013815" "00001437" "50" "2035" "-115" "2035" "-115" "c.2035-115T>C" "r.(=)" "p.(=)" "" "0000237844" "00001437" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Met)" "" "0000244149" "00001437" "90" "4205" "0" "4208" "0" "c.4205_4208del" "r.(?)" "p.(Val1402Glyfs*12)" "31" "0000247992" "00001437" "10" "4170" "0" "4170" "0" "c.4170A>C" "r.(?)" "p.(Leu1390Phe)" "" "0000248001" "00001437" "10" "3929" "0" "3929" "0" "c.3929A>T" "r.(?)" "p.(Gln1310Leu)" "" "0000249465" "00001437" "30" "3368" "0" "3368" "0" "c.3368A>C" "r.(?)" "p.(Gln1123Pro)" "" "0000253253" "00001437" "10" "4170" "0" "4170" "0" "c.4170A>C" "r.(?)" "p.(Leu1390Phe)" "" "0000253262" "00001437" "10" "3929" "0" "3929" "0" "c.3929A>T" "r.(?)" "p.(Gln1310Leu)" "" "0000253587" "00001437" "10" "866" "0" "866" "0" "c.866A>G" "r.(?)" "p.(Lys289Arg)" "" "0000253598" "00001437" "10" "2312" "0" "2312" "0" "c.2312A>G" "r.(?)" "p.(Lys771Arg)" "" "0000254474" "00001437" "30" "3016" "0" "3016" "0" "c.3016A>C" "r.(?)" "p.(Ile1006Leu)" "" "0000254892" "00001437" "30" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Gln1123Arg)" "" "0000255325" "00001437" "30" "269" "12" "269" "12" "c.269+12del" "r.(=)" "p.(=)" "" "0000255883" "00001437" "50" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Asp390Gly)" "" "0000313065" "00001437" "10" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000313066" "00001437" "10" "2549" "0" "2549" "0" "c.2549T>C" "r.(?)" "p.(Leu850Ser)" "" "0000313067" "00001437" "30" "2972" "-15" "2972" "-15" "c.2972-15G>A" "r.(=)" "p.(=)" "" "0000313068" "00001437" "10" "2991" "0" "2991" "0" "c.2991C>T" "r.(?)" "p.(Ala997=)" "" "0000313069" "00001437" "10" "700" "-18" "700" "-18" "c.700-18C>T" "r.(=)" "p.(=)" "" "0000319861" "00001437" "50" "4584" "0" "4597" "0" "c.*12_*25del" "r.(=)" "p.(=)" "" "0000319862" "00001437" "10" "1233" "13" "1233" "13" "c.1233+13C>T" "r.(=)" "p.(=)" "" "0000319863" "00001437" "10" "1371" "12" "1371" "12" "c.1371+12C>T" "r.(=)" "p.(=)" "" "0000319864" "00001437" "30" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Met475Ile)" "" "0000319865" "00001437" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000319866" "00001437" "10" "1641" "0" "1641" "0" "c.1641G>A" "r.(?)" "p.(Thr547=)" "" "0000319867" "00001437" "30" "1642" "8" "1642" "8" "c.1642+8C>T" "r.(=)" "p.(=)" "" "0000319868" "00001437" "10" "1643" "-10" "1643" "-10" "c.1643-10C>T" "r.(=)" "p.(=)" "" "0000319869" "00001437" "50" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Thr575Met)" "" "0000319870" "00001437" "30" "1769" "-7" "1769" "-7" "c.1769-7C>T" "r.(=)" "p.(=)" "" "0000319871" "00001437" "10" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Val60=)" "" "0000319872" "00001437" "10" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Leu62=)" "" "0000319873" "00001437" "50" "1903" "0" "1903" "0" "c.1903G>C" "r.(?)" "p.(Asp635His)" "" "0000319874" "00001437" "10" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(Leu757=)" "" "0000319875" "00001437" "10" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(His761Tyr)" "" "0000319876" "00001437" "10" "2334" "-29" "2334" "-29" "c.2334-29C>T" "r.(=)" "p.(=)" "" "0000319877" "00001437" "10" "2467" "46" "2467" "47" "c.2467+46_2467+47del" "r.(=)" "p.(=)" "" "0000319878" "00001437" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Met)" "" "0000319879" "00001437" "10" "2549" "0" "2549" "0" "c.2549T>C" "r.(?)" "p.(Leu850Ser)" "" "0000319880" "00001437" "30" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Ser)" "" "0000319881" "00001437" "30" "2895" "0" "2895" "0" "c.2895C>T" "r.(?)" "p.(Ala965=)" "" "0000319882" "00001437" "30" "2972" "-15" "2972" "-15" "c.2972-15G>A" "r.(=)" "p.(=)" "" "0000319883" "00001437" "30" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Ser992Leu)" "" "0000319884" "00001437" "30" "2991" "0" "2991" "0" "c.2991C>T" "r.(?)" "p.(Ala997=)" "" "0000319885" "00001437" "30" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Pro1011=)" "" "0000319886" "00001437" "30" "3231" "0" "3231" "0" "c.3231C>T" "r.(?)" "p.(Pro1077=)" "" "0000319887" "00001437" "30" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Val1083Met)" "" "0000319888" "00001437" "30" "3336" "-5" "3336" "-5" "c.3336-5C>T" "r.spl?" "p.?" "" "0000319889" "00001437" "10" "3401" "0" "3401" "0" "c.3401T>G" "r.(?)" "p.(Met1134Arg)" "" "0000319890" "00001437" "10" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(Leu1156=)" "" "0000319891" "00001437" "30" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Ser1186=)" "" "0000319892" "00001437" "10" "3674" "0" "3674" "0" "c.3674G>A" "r.(?)" "p.(Arg1225His)" "" "0000319893" "00001437" "30" "3946" "0" "3946" "0" "c.3946C>G" "r.(?)" "p.(Gln1316Glu)" "" "0000319894" "00001437" "10" "4123" "0" "4123" "0" "c.4123G>A" "r.(?)" "p.(Gly1375Ser)" "" "0000319895" "00001437" "30" "4296" "0" "4296" "0" "c.4296C>T" "r.(?)" "p.(Leu1432=)" "" "0000319896" "00001437" "50" "4312" "-5" "4312" "-5" "c.4312-5T>G" "r.spl?" "p.?" "" "0000319897" "00001437" "30" "4329" "0" "4329" "0" "c.4329G>A" "r.(?)" "p.(Gln1443=)" "" "0000319898" "00001437" "30" "4338" "0" "4338" "0" "c.4338C>T" "r.(?)" "p.(Thr1446=)" "" "0000319899" "00001437" "30" "4527" "0" "4527" "0" "c.4527G>A" "r.(?)" "p.(Ser1509=)" "" "0000319900" "00001437" "10" "562" "-13" "562" "-13" "c.562-13C>T" "r.(=)" "p.(=)" "" "0000319901" "00001437" "10" "700" "-18" "700" "-18" "c.700-18C>T" "r.(=)" "p.(=)" "" "0000326392" "00001437" "50" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Asn166Ser)" "" "0000326393" "00001437" "30" "764" "0" "766" "0" "c.764_766del" "r.(?)" "p.(Phe255del)" "" "0000326394" "00001437" "50" "938" "0" "938" "0" "c.938C>A" "r.(?)" "p.(Thr313Lys)" "" "0000326395" "00001437" "50" "1742" "0" "1742" "0" "c.1742C>T" "r.(?)" "p.(Ser581Phe)" "" "0000326397" "00001437" "50" "2613" "0" "2613" "0" "c.2613G>C" "r.(?)" "p.(Glu871Asp)" "" "0000326400" "00001437" "50" "3878" "0" "3878" "0" "c.3878C>A" "r.(?)" "p.(Ala1293Asp)" "" "0000337863" "00001437" "10" "562" "-13" "562" "-13" "c.562-13C>T" "r.(=)" "p.(=)" "" "0000337864" "00001437" "10" "1233" "13" "1233" "13" "c.1233+13C>T" "r.(=)" "p.(=)" "" "0000337865" "00001437" "10" "1768" "18" "1768" "18" "c.1768+18C>T" "r.(=)" "p.(=)" "" "0000339914" "00001437" "10" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Val60=)" "" "0000339915" "00001437" "10" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Leu62=)" "" "0000339916" "00001437" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000339917" "00001437" "10" "1641" "0" "1641" "0" "c.1641G>A" "r.(?)" "p.(Thr547=)" "" "0000339918" "00001437" "10" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(Leu1156=)" "" "0000339919" "00001437" "10" "3639" "0" "3639" "0" "c.3639C>T" "r.(?)" "p.(Ser1213=)" "" "0000340782" "00001437" "50" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Gly248=)" "" "0000341144" "00001437" "10" "3812" "0" "3812" "0" "c.3812C>T" "r.(?)" "p.(Ala1271Val)" "" "0000344536" "00001437" "10" "3929" "0" "3929" "0" "c.3929A>T" "r.(?)" "p.(Gln1310Leu)" "" "0000345708" "00001437" "10" "4123" "0" "4123" "0" "c.4123G>A" "r.(?)" "p.(Gly1375Ser)" "" "0000346886" "00001437" "10" "4170" "0" "4170" "0" "c.4170A>C" "r.(?)" "p.(Leu1390Phe)" "" "0000347299" "00001437" "10" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(Leu757=)" "" "0000347730" "00001437" "10" "3401" "0" "3401" "0" "c.3401T>G" "r.(?)" "p.(Met1134Arg)" "" "0000349628" "00001437" "50" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Thr781=)" "" "0000350750" "00001437" "70" "2146" "1" "2146" "1" "c.2146+1G>A" "r.spl?" "p.?" "" "0000351132" "00001437" "10" "700" "-18" "700" "-18" "c.700-18C>T" "r.(=)" "p.(=)" "" "0000351133" "00001437" "10" "1643" "-10" "1643" "-10" "c.1643-10C>T" "r.(=)" "p.(=)" "" "0000351134" "00001437" "10" "2549" "0" "2549" "0" "c.2549T>C" "r.(?)" "p.(Leu850Ser)" "" "0000351135" "00001437" "50" "4312" "-5" "4312" "-5" "c.4312-5T>G" "r.spl?" "p.?" "" "0000358096" "00001437" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Ile)" "6" "0000567050" "00001437" "30" "102" "0" "102" "0" "c.102G>C" "r.(?)" "p.(Pro34=)" "" "0000567052" "00001437" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000567053" "00001437" "30" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Met)" "" "0000567054" "00001437" "30" "660" "0" "660" "0" "c.660T>C" "r.(?)" "p.(His220=)" "" "0000567055" "00001437" "50" "1043" "3" "1043" "3" "c.1043+3A>G" "r.spl?" "p.?" "" "0000567056" "00001437" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Tyr406=)" "" "0000567058" "00001437" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000567059" "00001437" "30" "1642" "8" "1642" "8" "c.1642+8C>T" "r.(=)" "p.(=)" "" "0000567061" "00001437" "30" "1987" "0" "1987" "0" "c.1987A>C" "r.(?)" "p.(Lys663Gln)" "" "0000567063" "00001437" "10" "2334" "-6" "2334" "-6" "c.2334-6C>A" "r.(=)" "p.(=)" "" "0000567065" "00001437" "30" "3066" "0" "3066" "0" "c.3066G>A" "r.(?)" "p.(Ser1022=)" "" "0000567067" "00001437" "10" "3639" "0" "3639" "0" "c.3639C>T" "r.(?)" "p.(Ser1213=)" "" "0000567068" "00001437" "30" "3812" "0" "3812" "0" "c.3812C>T" "r.(?)" "p.(Ala1271Val)" "" "0000567070" "00001437" "30" "4209" "0" "4209" "0" "c.4209G>A" "r.(?)" "p.(Pro1403=)" "" "0000567071" "00001437" "50" "4572" "0" "4572" "0" "c.4572A>C" "r.(?)" "p.(Ter1524CysextTer15)" "" "0000617562" "00001437" "90" "1822" "0" "1822" "0" "c.1822del" "r.(?)" "p.(Arg608AlafsTer18)" "" "0000617563" "00001437" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Val625Ile)" "" "0000617564" "00001437" "50" "2418" "0" "2418" "0" "c.2418T>G" "r.(?)" "p.(Cys806Trp)" "" "0000623987" "00001437" "30" "3411" "0" "3411" "0" "c.3411C>A" "r.(?)" "p.(Gly1137=)" "" "0000624884" "00001437" "90" "2508" "0" "2508" "0" "c.2508G>A" "r.(?)" "p.(Trp836Ter)" "" "0000630949" "00001437" "90" "3361" "0" "3361" "0" "c.3361del" "r.[(3359del),spl]" "p.[(Ala1121Glnfs*6),?]" "" "0000630950" "00001437" "90" "3361" "0" "3361" "0" "c.3361del" "r.[(3359del),spl]" "p.[(Ala1121Glnfs*6),?]" "" "0000630951" "00001437" "90" "3361" "0" "3361" "0" "c.3361del" "r.[(3359del),spl]" "p.[(Ala1121Glnfs*6),?]" "" "0000630952" "00001437" "90" "3361" "0" "3361" "0" "c.3361del" "r.[(3359del),spl]" "p.[(Ala1121Glnfs*6),?]" "" "0000630963" "00001437" "90" "2520" "5" "2520" "5" "c.2520+5G>T" "r.spl" "p.?" "" "0000630964" "00001437" "90" "2520" "5" "2520" "5" "c.2520+5G>T" "r.spl" "p.?" "" "0000630965" "00001437" "90" "2520" "5" "2520" "5" "c.2520+5G>T" "r.spl" "p.?" "" "0000630966" "00001437" "90" "2520" "5" "2520" "5" "c.2520+5G>T" "r.spl" "p.?" "" "0000658551" "00001437" "90" "2508" "0" "2508" "0" "c.2508G>A" "r.(?)" "p.(Trp836Ter)" "" "0000658552" "00001437" "30" "3786" "0" "3786" "0" "c.3786C>T" "r.(?)" "p.(Gly1262=)" "" "0000681389" "00001437" "30" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "" "0000681390" "00001437" "50" "4397" "0" "4397" "0" "c.4397T>A" "r.(?)" "p.(Leu1466Gln)" "" "0000692773" "00001437" "90" "4345" "0" "4345" "0" "c.4345C>T" "r.(?)" "p.(Gln1449Ter)" "" "0000701848" "00001437" "70" "2520" "1" "2520" "1" "c.2520+1G>T" "r.spl" "p.(Leu840Leufs*95)" "" "0000727294" "00001437" "70" "141" "0" "141" "0" "c.141dup" "r.(?)" "p.(Leu48ThrfsTer32)" "" "0000727295" "00001437" "50" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Ala1078Thr)" "" "0000727296" "00001437" "90" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Gln1102*)" "" "0000730334" "00001437" "50" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(His533Arg)" "12" "0000763214" "00001437" "70" "3012" "0" "3034" "0" "c.3012_3034dup" "r.(?)" "p.(Pro1012Glnfs*64)" "" "0000787426" "00001437" "50" "2210" "0" "2210" "0" "c.2210G>C" "r.(?)" "p.(Ser737Thr)" "18" "0000787456" "00001437" "70" "1959" "-2" "1959" "-2" "c.1959-2A>G" "r.spl" "p.?" "15i" "0000808833" "00001437" "50" "1836" "2" "1836" "2" "c.1836+2T>G" "r.spl?" "p.?" "" "0000808834" "00001437" "30" "2211" "-4" "2211" "-4" "c.2211-4G>A" "r.spl?" "p.?" "" "0000808835" "00001437" "50" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Pro1403Leu)" "" "0000817749" "00001437" "70" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(His533Arg)" "" "0000817792" "00001437" "90" "177" "1" "177" "1" "c.177+1G>T" "r.spl" "p.?" "" "0000817824" "00001437" "90" "3493" "0" "3494" "0" "c.3493_3494del" "r.(?)" "p.(Leu1165GlyfsTer71)" "" "0000841158" "00001437" "90" "2508" "0" "2508" "0" "c.2508G>A" "r.(?)" "p.(Trp836Ter)" "" "0000866046" "00001437" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Ile190=)" "" "0000866047" "00001437" "30" "1370" "0" "1370" "0" "c.1370A>G" "r.(?)" "p.(Asn457Ser)" "" "0000866048" "00001437" "50" "2972" "0" "2972" "0" "c.2972A>T" "r.(?)" "p.(Asp991Val)" "" "0000915208" "00001437" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Ile)" "" "0000920694" "00001437" "70" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Asp511Asn)" "" "0000920695" "00001437" "90" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Asp511Asn)" "" "0000920696" "00001437" "70" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Ser509Leu)" "" "0000920697" "00001437" "90" "1043" "3" "1043" "3" "c.1043+3A>G" "r.spl" "p.?" "" "0000920698" "00001437" "90" "1043" "3" "1043" "3" "c.1043+3A>G" "r.spl" "p.?" "" "0000920699" "00001437" "90" "1521" "0" "1521" "0" "c.1521G>A" "r.spl" "p.?" "" "0000920700" "00001437" "90" "3936" "0" "3936" "0" "c.3936dup" "r.(?)" "p.(Val1313ArgfsTer18)" "" "0000920706" "00001437" "70" "4345" "0" "4345" "0" "c.4345C>T" "r.(?)" "p.(Gln1449Ter)" "" "0000920707" "00001437" "90" "3469" "0" "3470" "0" "c.3469_3470del" "r.(?)" "p.(Ala1157CysfsTer5)" "" "0000920708" "00001437" "90" "3383" "0" "3401" "0" "c.3383_3401del" "r.(?)" "p.(Ser1128TrpfsTer164)" "" "0000920709" "00001437" "90" "2788" "0" "2788" "0" "c.2788C>T" "r.(?)" "p.(Gln930Ter)" "" "0000921169" "00001437" "90" "332" "0" "332" "0" "c.332G>C" "r.[(270_332del,332_333ins332+1_332+87)]" "p.[(Cys91_Arg111del,Arg111ThrfsTer2)]" "3" "0000921170" "00001437" "90" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(Trp398Ter)" "9" "0000921171" "00001437" "70" "1313" "0" "1313" "0" "c.1313G>A" "r.(?)" "p.(Arg438His)" "10" "0000921172" "00001437" "90" "3361" "0" "3361" "0" "c.3361delG" "r.(?)" "p.(Ala1121GlnfsTer6)" "28" "0000921173" "00001437" "90" "3503" "0" "3503" "0" "c.3503G>A" "r.(?)" "p.(Trp1168Ter)" "29" "0000921400" "00001437" "90" "332" "0" "332" "0" "c.332G>C" "r.[270_332del,332_333ins332+1_332+87]" "p.[Cys91_Arg111del,Arg111ThrfsTer2]" "3" "0000921424" "00001437" "90" "2667" "0" "2668" "0" "c.2667_2668delinsTT" "r.(?)" "p.(Met889delinsIleTer)" "22" "0000921434" "00001437" "90" "883" "-1272" "1234" "-850" "c.883-1272_1234-850del" "r.(883_1233del)" "p.?" "7i_9i" "0000921443" "00001437" "90" "2520" "5" "2520" "5" "c.2520+5G>T" "r.(2468_2520del)" "p.?" "21i" "0000983406" "00001437" "50" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Glu526Lys)" "" "0000983407" "00001437" "30" "3612" "0" "3612" "0" "c.3612C>T" "r.(?)" "p.(=)" "" "0001004670" "00001437" "30" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219His)" "" "0001004671" "00001437" "70" "3574" "0" "3575" "0" "c.3574_3575del" "r.(?)" "p.(Arg1192Glufs*44)" "" "0001015789" "00001437" "30" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(=)" "" "0001027212" "00001437" "50" "4159" "0" "4159" "0" "c.4159C>A" "r.(?)" "p.(Leu1387Ile)" "" "0001042892" "00001437" "50" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(=)" "" "0001042893" "00001437" "90" "2864" "0" "2867" "0" "c.2864_2867del" "r.(?)" "p.(Asp955Alafs*112)" "" "0001042894" "00001437" "50" "4154" "-1" "4154" "-1" "c.4154-1G>C" "r.spl?" "p.?" "" "0001045040" "00001437" "90" "250" "0" "250" "0" "c.250dup" "r.(250dup)" "p.(His84Profs*25)" "" "0001056616" "00001437" "50" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Val197Leu)" "" "0001056617" "00001437" "50" "4526" "0" "4526" "0" "c.4526C>T" "r.(?)" "p.(Ser1509Leu)" "" "0001059302" "00001437" "90" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Glu526Lys)" "" "0001067179" "00001437" "70" "1550" "4" "1550" "4" "c.1550+4A>G" "r.spl?" "p.?" "" "0001067180" "00001437" "70" "4441" "0" "4498" "0" "c.4441_4498del" "r.(?)" "p.(Ala1481Thrfs*37)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013813" "0000000210" "0000013814" "0000000210" "0000013815" "0000145472" "0000237844" "0000150993" "0000244149" "0000156175" "0000358096" "0000271036" "0000624884" "0000276810" "0000630949" "0000276811" "0000630950" "0000276812" "0000630951" "0000276813" "0000630952" "0000276824" "0000630963" "0000276825" "0000630964" "0000276826" "0000630965" "0000276827" "0000630966" "0000319184" "0000701848" "0000332947" "0000730334" "0000362840" "0000763214" "0000375438" "0000787456" "0000376075" "0000787426" "0000388956" "0000817749" "0000388999" "0000817792" "0000389031" "0000817824" "0000405097" "0000841158" "0000434817" "0000920694" "0000434817" "0000920706" "0000434818" "0000920695" "0000434818" "0000920707" "0000434819" "0000920696" "0000434820" "0000920697" "0000434821" "0000920698" "0000434821" "0000920708" "0000434822" "0000920699" "0000434822" "0000920709" "0000434823" "0000920700" "0000435218" "0000921169" "0000435219" "0000921170" "0000435220" "0000921171" "0000435221" "0000921172" "0000435222" "0000921173" "0000435415" "0000921400" "0000435436" "0000921424" "0000435446" "0000921434" "0000435455" "0000921443" "0000467248" "0001045040" "0000471180" "0001059302"