### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR37) # 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}}" "WDR37" "WD repeat domain 37" "10" "p15.3" "unknown" "NC_000010.10" "UD_132319284265" "" "https://www.LOVD.nl/WDR37" "" "1" "31406" "22884" "0" "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/WDR37_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-10 16:33:05" "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}}" "00022762" "WDR37" "WD repeat domain 37" "001" "NM_014023.3" "" "NP_054742.2" "" "" "" "-173" "4438" "1485" "1102776" "1178237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "06096" "NOCGUS" "Neurooculocardiogenitourinary syndrome" "AD" "618652" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "WDR37" "06096" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00261145" "" "" "" "1" "" "00006" "{PMID:Kanca 2019:31327508}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat1" "00261146" "" "" "" "1" "" "00006" "{PMID:Kanca 2019:31327508}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Australia" "" "0" "" "" "" "Pat2" "00261147" "" "" "" "1" "" "00006" "{PMID:Kanca 2019:31327508}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat3" "00261148" "" "" "" "1" "" "00006" "{PMID:Kanca 2019:31327508}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat4" "00261149" "" "" "" "1" "" "00006" "{PMID:Kanca 2019:31327508}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat5" "00261150" "" "" "" "1" "" "00006" "{PMID:Reis 2019:31327510}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "white, European" "Fam1" "00261151" "" "" "" "1" "" "00006" "{PMID:Reis 2019:31327510}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white, European" "Fam2" "00261152" "" "" "" "1" "" "00006" "{PMID:Reis 2019:31327510}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "white, European" "Fam3" "00261153" "" "" "" "1" "" "00006" "{PMID:Reis 2019:31327510}" "" "" "" "United States" "" "0" "" "" "" "Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00261145" "05162" "00261146" "05162" "00261147" "05162" "00261148" "05162" "00261149" "05162" "00261150" "05162" "00261151" "05162" "00261152" "05162" "00261153" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05162, 06096 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000199654" "05162" "00261145" "00006" "Isolated (sporadic)" "" "abnormal cerebellum morphology (HP:0001317); epilepsy (HP:0001250); congenital heart defect (HP:0001627), persistent foramen ovale, ventricular septal defect; bilateral coloboma (HP:0000589); developmental delay (HP:0001263); intellectual disability (HP:0001249); postnatal microcephaly (HP:0005484); left microphthalmia (HP:0000568); left Peters’ anomaly (HP:0000659); sensorineural hearing loss (HP:0000407); downturned mouth (HP:0002714); prominent nasal bridge (HP:0000426); irregular and bridged palmar creases (HP:0010490); smooth philtrum (HP:000319); prominent/tall forehead (HP:0011220); no epicanthal folds (-HP:0000286); no hypertelorism (-HP:0000316); low set ears (HP:0000369); wide-spaced nipples (HP:0006610); no excessive nuchal skin (-HP:0005989); micropenis (HP:0000054); cryptorchidism (HP:0000028)" "" "" "" "" "" "" "" "" "developmental delay" "0000199655" "05162" "00261146" "00006" "Isolated (sporadic)" "" "abnormal cerebellum morphology (HP:0001317); epilepsy (HP:0001250); congenital heart defect (HP:0001627), ventricular septal defect, atrial septal defect, patent ductus arteriosus, tricuspid regurgitation; bilateral coloboma (HP:0000589); developmental delay (HP:0001263); intellectual disability (HP:0001249); postnatal microcephaly (HP:0005484); left microphthalmia (HP:0000568); no Peters’ anomaly (-HP:0000659); sensorineural hearing loss (HP:0000407); downturned mouth (HP:0002714); prominent nasal bridge (HP:0000426); single palmar crease (HP:0010490); smooth philtrum (HP:000319); prominent/tall forehead (HP:0011220); no epicanthal folds (-HP:0000286); hypertelorism (HP:0000316); low set ears (HP:0000369); no wide-spaced nipples (-HP:0006610); no excessive nuchal skin (-HP:0005989);" "" "" "" "" "" "" "" "" "developmental delay" "0000199656" "05162" "00261147" "00006" "Isolated (sporadic)" "" "abnormal cerebellum morphology (HP:0001317); epilepsy (HP:0001250); congenital heart defect (HP:0001627), ventricular septal defect, patent ductus arteriosus; bilateral coloboma (HP:0000589); developmental delay (HP:0001263); intellectual disability (HP:0001249); no postnatal microcephaly (-HP:0005484); no microphthalmia (-HP:0000568); no Peters’ anomaly (-HP:0000659); no sensorineural hearing loss (-HP:0000407); downturned mouth (HP:0002714); prominent nasal bridge (HP:0000426); hockey stick palmar creases (HP:0010490); smooth philtrum (HP:000319); prominent/tall forehead (HP:0011220); epicanthal folds (HP:0000286); hypertelorism (HP:0000316); no low set ears (-HP:0000369); wide-spaced nipples (HP:0006610); excessive nuchal skin (HP:0005989);" "" "" "" "" "" "" "" "" "developmental delay" "0000199657" "05162" "00261148" "00006" "Isolated (sporadic)" "" "abnormal cerebellum morphology (HP:0001317); epilepsy (HP:0001250); no congenital heart defect (-HP:0001627); bilateral coloboma (HP:0000589); developmental delay (HP:0001263); intellectual disability (HP:0001249); postnatal microcephaly (HP:0005484); no microphthalmia (-HP:0000568); no Peters’ anomaly (-HP:0000659); no sensorineural hearing loss (-HP:0000407); downturned mouth (HP:0002714); prominent nasal bridge (HP:0000426); abnormality palmar creases (HP:0010490); smooth philtrum (HP:000319); prominent/tall forehead (HP:0011220); epicanthal folds (HP:0000286); no hypertelorism (-HP:0000316); no low set ears (-HP:0000369); no wide-spaced nipples (-HP:0006610); no excessive nuchal skin (-HP:0005989);" "" "" "" "" "" "" "" "" "developmental delay" "0000199658" "05162" "00261149" "00006" "Isolated (sporadic)" "" "abnormal cerebellum morphology (HP:0001317); epilepsy (HP:0001250); congenital heart defect (HP:0001627), atrial septal defect, cardiomegaly; no coloboma (-HP:0000589); bilateral microphthalmia (HP:0000568); no Peters’ anomaly (-HP:0000659); downturned mouth (HP:0002714); prominent nasal bridge (HP:0000426); diminished palmar creases (HP:0010490); no prominent/tall forehead (-HP:0011220); no epicanthal folds (-HP:0000286); no hypertelorism (-HP:0000316); low set ears (HP:0000369); wide-spaced nipples (HP:0006610); excessive nuchal skin (HP:0005989); micropenis (HP:0000054); cryptorchidism (HP:0000028)" "" "" "" "" "" "" "" "" "developmental delay" "0000199659" "05162" "00261150" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "developmental delay" "0000199660" "05162" "00261151" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "developmental delay" "0000199661" "05162" "00261152" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "developmental delay" "0000199662" "05162" "00261153" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "developmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000262250" "00261145" "1" "00006" "00006" "2019-08-10 16:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262251" "00261146" "1" "00006" "00006" "2019-08-10 16:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262252" "00261147" "1" "00006" "00006" "2019-08-10 16:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262253" "00261148" "1" "00006" "00006" "2019-08-10 16:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262254" "00261149" "1" "00006" "00006" "2019-08-10 16:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262255" "00261150" "1" "00006" "00006" "2019-08-10 17:24:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262256" "00261151" "1" "00006" "00006" "2019-08-10 17:24:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262257" "00261152" "1" "00006" "00006" "2019-08-10 17:24:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262258" "00261153" "1" "00006" "00006" "2019-08-10 17:24:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000262250" "WDR37" "0000262251" "WDR37" "0000262252" "WDR37" "0000262253" "WDR37" "0000262254" "WDR37" "0000262255" "WDR37" "0000262256" "WDR37" "0000262257" "WDR37" "0000262258" "WDR37" ## 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 = 29 "{{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}}" "0000539193" "0" "50" "10" "1142119" "1142119" "subst" "0" "01943" "WDR37_000001" "g.1142119A>G" "" "" "" "WDR37(NM_014023.3):c.659A>G (p.D220G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1096179A>G" "" "VUS" "" "0000592520" "0" "90" "10" "1126394" "1126394" "subst" "0" "00006" "WDR37_000003" "g.1126394C>T" "" "{PMID:Kanca 2019:31327508}" "" "" "" "De novo" "" "" "0" "" "" "g.1080454C>T" "" "pathogenic (dominant)" "" "0000592521" "0" "90" "10" "1126406" "1126406" "subst" "0" "00006" "WDR37_000004" "g.1126406C>G" "" "{PMID:Kanca 2019:31327508}" "" "" "" "De novo" "" "" "0" "" "" "g.1080466C>G" "" "pathogenic (dominant)" "" "0000592522" "0" "90" "10" "1126376" "1126376" "subst" "0" "00006" "WDR37_000002" "g.1126376C>T" "" "{PMID:Kanca 2019:31327508}" "" "" "" "De novo" "" "" "0" "" "" "g.1080436C>T" "" "pathogenic (dominant)" "" "0000592523" "0" "90" "10" "1126406" "1126406" "subst" "0" "00006" "WDR37_000004" "g.1126406C>G" "" "{PMID:Kanca 2019:31327508}" "" "" "" "De novo" "" "" "0" "" "" "g.1080466C>G" "" "pathogenic (dominant)" "" "0000592524" "0" "90" "10" "1126409" "1126409" "subst" "0" "00006" "WDR37_000005" "g.1126409C>T" "" "{PMID:Kanca 2019:31327508}" "" "" "" "De novo" "" "" "0" "" "" "g.1080469C>T" "" "pathogenic (dominant)" "" "0000592525" "0" "90" "10" "1126376" "1126376" "subst" "0" "00006" "WDR37_000002" "g.1126376C>T" "" "{PMID:Reis 2019:31327510}" "" "" "" "De novo" "" "" "0" "" "" "g.1080436C>T" "" "pathogenic (dominant)" "" "0000592526" "0" "90" "10" "1126409" "1126409" "subst" "0" "00006" "WDR37_000005" "g.1126409C>T" "" "{PMID:Reis 2019:31327510}" "" "" "" "De novo" "" "" "0" "" "" "g.1080469C>T" "" "pathogenic (dominant)" "" "0000592527" "0" "90" "10" "1126394" "1126394" "subst" "0" "00006" "WDR37_000003" "g.1126394C>T" "" "{PMID:Reis 2019:31327510}" "" "" "" "De novo" "" "" "0" "" "" "g.1080454C>T" "" "pathogenic (dominant)" "" "0000592528" "0" "90" "10" "1126406" "1126406" "subst" "0" "00006" "WDR37_000004" "g.1126406C>G" "" "{PMID:Reis 2019:31327510}" "" "" "" "De novo" "" "" "0" "" "" "g.1080466C>G" "" "pathogenic (dominant)" "" "0000612296" "0" "90" "10" "1126376" "1126376" "subst" "0" "02327" "WDR37_000002" "g.1126376C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1080436C>T" "" "pathogenic" "" "0000722686" "0" "50" "10" "1126376" "1126376" "subst" "0" "02327" "WDR37_000006" "g.1126376C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722688" "0" "50" "10" "1132249" "1132249" "subst" "3.65616E-5" "02325" "WDR37_000007" "g.1132249A>G" "" "" "" "WDR37(NM_014023.4):c.556A>G (p.I186V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925120" "0" "30" "10" "1149761" "1149761" "subst" "5.31441E-5" "02325" "WDR37_000008" "g.1149761G>A" "" "" "" "WDR37(NM_014023.4):c.946G>A (p.V316I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949348" "0" "50" "10" "1175180" "1175180" "subst" "0.000154371" "02325" "WDR37_000009" "g.1175180G>T" "" "" "" "WDR37(NM_014023.4):c.1381G>T (p.A461S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965584" "0" "30" "10" "1123920" "1123920" "subst" "0.000837672" "02325" "WDR37_000010" "g.1123920A>G" "" "" "" "WDR37(NM_014023.4):c.212A>G (p.N71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978895" "0" "50" "10" "1126393" "1126393" "subst" "0" "02325" "WDR37_000011" "g.1126393A>G" "" "" "" "WDR37(NM_014023.4):c.373A>G (p.T125A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978903" "0" "50" "10" "1151064" "1151064" "subst" "0" "02327" "WDR37_000012" "g.1151064A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998091" "0" "30" "10" "1118129" "1118129" "subst" "4.06151E-6" "01804" "WDR37_000013" "g.1118129C>T" "" "" "" "WDR37(NM_014023.3):c.34C>T (p.(Arg12Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998092" "0" "50" "10" "1118147" "1118147" "subst" "1.21841E-5" "01804" "WDR37_000014" "g.1118147C>T" "" "" "" "WDR37(NM_014023.3):c.52C>T (p.(Arg18Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998093" "0" "30" "10" "1118160" "1118160" "subst" "0" "01804" "WDR37_000015" "g.1118160G>A" "" "" "" "WDR37(NM_014023.3):c.65G>A (p.(Ser22Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998100" "0" "50" "10" "1123840" "1123842" "del" "0" "01804" "WDR37_000016" "g.1123840_1123842del" "" "" "" "WDR37(NM_014023.3):c.139-7_139-5delTCT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998117" "0" "50" "10" "1130406" "1130406" "subst" "2.03039E-5" "01804" "WDR37_000017" "g.1130406G>A" "" "" "" "WDR37(NM_014023.3):c.460G>A (p.(Gly154Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998118" "0" "30" "10" "1130445" "1130445" "subst" "4.4678E-5" "01804" "WDR37_000018" "g.1130445A>C" "" "" "" "WDR37(NM_014023.3):c.499A>C (p.(Thr167Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998131" "0" "50" "10" "1170235" "1170235" "subst" "0" "01804" "WDR37_000019" "g.1170235A>T" "" "" "" "WDR37(NM_014023.3):c.1181A>T (p.(Asp394Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037712" "0" "30" "10" "1118242" "1118242" "subst" "8.20183E-6" "01804" "WDR37_000020" "g.1118242C>T" "" "" "" "WDR37(NM_014023.4):c.138+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037731" "0" "30" "10" "1149629" "1149629" "subst" "2.43799E-5" "01804" "WDR37_000021" "g.1149629G>A" "" "" "" "WDR37(NM_014023.4):c.814G>A (p.(Val272Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037735" "0" "30" "10" "1170185" "1170185" "subst" "0.000361395" "01804" "WDR37_000022" "g.1170185G>A" "" "" "" "WDR37(NM_014023.4):c.1131G>A (p.(Val377=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065193" "0" "50" "10" "1126352" "1126352" "subst" "0" "02325" "WDR37_000023" "g.1126352C>G" "" "" "" "" "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 WDR37 ## Count = 29 "{{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}}" "0000539193" "00022762" "50" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Asp220Gly)" "" "0000592520" "00022762" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Ile)" "" "0000592521" "00022762" "90" "386" "0" "386" "0" "c.386C>G" "r.(?)" "p.(Ser129Cys)" "" "0000592522" "00022762" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Ser119Phe)" "" "0000592523" "00022762" "90" "386" "0" "386" "0" "c.386C>G" "r.(?)" "p.(Ser129Cys)" "" "0000592524" "00022762" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000592525" "00022762" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Ser119Phe)" "" "0000592526" "00022762" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000592527" "00022762" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Ile)" "" "0000592528" "00022762" "90" "386" "0" "386" "0" "c.386C>G" "r.(?)" "p.(Ser129Cys)" "" "0000612296" "00022762" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Ser119Phe)" "" "0000722686" "00022762" "50" "356" "0" "356" "0" "c.356C>A" "r.(?)" "p.(Ser119Tyr)" "" "0000722688" "00022762" "50" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Ile186Val)" "" "0000925120" "00022762" "30" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Ile)" "" "0000949348" "00022762" "50" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Ala461Ser)" "" "0000965584" "00022762" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0000978895" "00022762" "50" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Thr125Ala)" "" "0000978903" "00022762" "50" "962" "-2" "962" "-2" "c.962-2A>G" "r.spl?" "p.?" "" "0000998091" "00022762" "30" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Arg12Cys)" "" "0000998092" "00022762" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Cys)" "" "0000998093" "00022762" "30" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Ser22Asn)" "" "0000998100" "00022762" "50" "139" "-7" "139" "-5" "c.139-7_139-5del" "r.spl?" "p.?" "" "0000998117" "00022762" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000998118" "00022762" "30" "499" "0" "499" "0" "c.499A>C" "r.(?)" "p.(Thr167Pro)" "" "0000998131" "00022762" "50" "1181" "0" "1181" "0" "c.1181A>T" "r.(?)" "p.(Asp394Val)" "" "0001037712" "00022762" "30" "138" "9" "138" "9" "c.138+9C>T" "r.(=)" "p.(=)" "" "0001037731" "00022762" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0001037735" "00022762" "30" "1131" "0" "1131" "0" "c.1131G>A" "r.(?)" "p.(=)" "" "0001065193" "00022762" "50" "332" "0" "332" "0" "c.332C>G" "r.(?)" "p.(Ala111Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000262250" "0000592520" "0000262251" "0000592521" "0000262252" "0000592522" "0000262253" "0000592523" "0000262254" "0000592524" "0000262255" "0000592525" "0000262256" "0000592526" "0000262257" "0000592527" "0000262258" "0000592528"