### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DVL3) # 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}}" "DVL3" "dishevelled, dsh homolog 3 (Drosophila)" "3" "q27" "unknown" "NC_000003.11" "UD_136064882126" "" "https://www.LOVD.nl/DVL3" "" "1" "3087" "1857" "601368" "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/DVL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-01 15:37:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00006785" "DVL3" "dishevelled, dsh homolog 3 (Drosophila)" "001" "NM_004423.3" "" "NP_004414.3" "" "" "" "-140" "4922" "2151" "183873284" "183891314" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00577" "DRS" "Robinow syndrome, autosomal dominant (DRS)" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05848" "DRS3" "Robinow, autosomal dominant syndrome, type 3 (DRS3)" "AD" "616894" "" "" "" "00006" "2020-09-29 15:43:13" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DVL3" "00577" "DVL3" "05848" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00065218" "" "" "" "2" "" "01606" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "2-generation family, affected father/daughter" "F" "" "" ">14y" "0" "" "" "white" "26924530 BAB7990" "00065222" "" "" "" "1" "" "01606" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "" "M" "" "" ">12y" "" "" "" "white" "26924530 BAB7982" "00065226" "" "" "" "1" "" "01606" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" ">35y" "0" "" "" "white" "26924530 BAB4569" "00065230" "" "" "" "2" "" "01606" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "2-generation family, affected mother/daughter; daughter" "F" "" "" ">38y" "0" "" "" "white" "26924530-Pat015902" "00311898" "" "" "" "2" "" "00006" "{PMID:White 2016:26924530}" "family, affected mother/daughter; daughter" "F" "" "" "" "0" "" "" "" "15902" "00311899" "" "" "" "2" "" "00006" "{PMID:White 2016:26924530}" "family, affected father/daughter; daughter" "F" "" "" "" "0" "" "" "" "BAB7990" "00311900" "" "" "" "1" "" "00006" "{PMID:White 2016:26924530}" "" "" "" "" "" "0" "" "" "" "BAB7985" "00311901" "" "" "" "1" "" "00006" "{PMID:White 2016:26924530}" "" "M" "" "" "" "0" "" "" "" "BAB7982" "00311902" "" "" "" "1" "" "00006" "{PMID:White 2016:26924530}" "" "F" "" "" "" "0" "" "" "" "BAB4569" "00406604" "" "" "" "1" "" "00006" "{PMID:Rai 2021:33496066}" "3-generation family, 1 affected, unaffected non-carrier parents" "F" "" "India" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00065218" "00577" "00065222" "00577" "00065226" "00577" "00065230" "00577" "00311898" "00180" "00311899" "00180" "00311900" "00180" "00311901" "00180" "00311902" "00180" "00406604" "00180" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 00577, 05848 ## Count = 10 "{{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}}" "0000051327" "00577" "00065218" "01606" "Familial, autosomal dominant" "10y" "Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed and short tongue (HP:0000157), Misalignment of teeth (HP:0000692), Micrognathia (HP:0000347).\r\n\r\nMesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Syndactyly (HP_0001159), Camptodactyly (HP:0012385), Broad thumb (HP:0011304), Short phalanx of finger (HP:0009803), Broad first toe (HP:0001837), Abnormality of the sternum (HP:0000766).\r\n\r\nSacral dimple (HP:0000960), Clitoral hypoplasia (HP:0000060), Vesicoureteral reflux (HP_0000076), Omphalocele (HP_0001539)" "" "" "" "" "" "" "" "" "" "0000051330" "00577" "00065222" "01606" "Isolated (sporadic)" "00y19m" "Frontal bossing (HP:0002007), High forehead (HP:0000348), Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Cleft upper lip (HP:0000204), cleft palate (HP:0000175), Micrognathia (HP:0000347), Low-set ears (HP:0000369).\r\n\r\nMesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084)\r\n\r\nCryptorchidism (HP:0000028), Micropenis (HP:0000054)" "" "" "" "" "" "" "" "" "" "0000051335" "00577" "00065226" "01606" "Isolated (sporadic)" "33y" "Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Epicanthus (HP:0000286), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Triangular mouth (HP:0000207), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Micrognathia (HP:0000347).\r\n\r\nMesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Abnormality of the sternum (HP:0000766).\r\n\r\nHearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "0000051337" "00577" "00065230" "01606" "Familial, autosomal dominant" "27y" "Frontal bossing (HP:0002007), Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Upslanting palpebral fissures (HP:0000582), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Gingival overgrowth (HP:0000212), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Webbed neck (HP:0000465). \r\n\r\nMesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084) Broad first toe (HP:0001837).\r\n\r\nUmbilical hernia (HP:0001537)." "" "" "" "" "" "" "" "" "" "0000237147" "00180" "00311898" "00006" "Familial, autosomal dominant" "27y" "height <3rd percentile; OFC >98th; frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft lip and/or palate; bilobed tongue; webbed neck; no micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; broad first toe; no scoliosis or kyphosis; no pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; no heart defects; umbilical hernia; no seizures; no hearing loss; no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "DRS3" "Robinow syndrome" "0000237148" "00180" "00311899" "00006" "Familial, autosomal dominant" "10y" "height <3rd percentile; OFC 50th-75th; no frontal bossing; no high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue, short tongue; no short neck; micrognathia; abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; syndactyly; camptodactyly; broad thumb; no nail dysplasia; bifid first and second phalanges; hypoplastic phalanges; broad first toe; scoliosis or kyphosis; pectus anomaly; sacral dimple; no agenesis of the labia minora; small clitoris; urinary reflux; no inguinal hernia; ventricular septal defect, pulmonary atresia, hypoplastic right heart; no umbilical hernia; no seizures; no hearing loss; omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "DRS3" "Robinow syndrome" "0000237149" "00180" "00311900" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DRS3" "Robinow syndrome" "0000237150" "00180" "00311901" "00006" "Isolated (sporadic)" "19m" "height <3rd percentile; OFC 50th; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; no triangular mouth; no thin upper lip; no absent uvula; cleft lip, cleft palate; no short neck; micrognathia; low set ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; hypoplastic phalanges (fifth); no broad first toe; no scoliosis or kyphosis; no sacral dimple; cryptorchidism; no hypospadias; buried micropenis; no urinary reflux; no inguinal hernia; patent ductus arteriosu, patent foramen ovale, tricuspid regurgitation; no umbilical hernia; no seizures; no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "DRS3" "Robinow syndrome" "0000237151" "00180" "00311902" "00006" "Isolated (sporadic)" "33y" "height <3rd percentile; OFC >98th; no frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; no upslanting palpebral fissures; no long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue; no short neck; micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; no broad first toe; scoliosis or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; ventricular septal defect; no umbilical hernia; no seizures; hearing loss; no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "DRS3" "Robinow syndrome" "0000299078" "00180" "00406604" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DRS3" "Robinow syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065371" "00065218" "1" "01606" "01606" "2016-05-23 13:51:25" "" "" "SEQ" "DNA" "" "" "0000065375" "00065222" "1" "01606" "01606" "2016-05-23 14:12:45" "" "" "SEQ" "DNA" "" "" "0000065380" "00065226" "1" "01606" "01606" "2016-05-23 14:30:17" "00006" "2017-01-04 12:25:49" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000065382" "00065230" "1" "01606" "01606" "2016-05-23 14:44:35" "" "" "SEQ" "DNA" "" "" "0000313070" "00311898" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "WES" "0000313071" "00311899" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "WES" "0000313072" "00311900" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "WES" "0000313073" "00311901" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "WES" "0000313074" "00311902" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "WES" "0000407847" "00406604" "1" "00006" "00006" "2022-04-01 16:51:31" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000065371" "DVL3" "0000065375" "DVL3" "0000065380" "DVL3" "0000065382" "DVL3" "0000313070" "DVL3" "0000313071" "DVL3" "0000313072" "DVL3" "0000313073" "DVL3" "0000313074" "DVL3" ## 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 = 37 "{{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}}" "0000097047" "11" "90" "3" "183887880" "183887880" "del" "0" "01606" "DVL3_000003" "g.183887880del" "" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184170092del" "" "pathogenic" "" "0000097050" "0" "90" "3" "183888106" "183888106" "subst" "0" "01606" "DVL3_000004" "g.183888106G>A" "" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "" "" "" "De novo" "" "" "0" "" "" "g.184170318G>A" "" "pathogenic" "" "0000097052" "0" "90" "3" "183888108" "183888108" "del" "0" "01606" "DVL3_000002" "g.183888108del" "" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "" "" "" "De novo" "" "" "0" "" "" "g.184170320del" "" "pathogenic" "" "0000097053" "21" "90" "3" "183888141" "183888141" "del" "0" "01606" "DVL3_000001" "g.183888141del" "" "{PMID:White 2016:26924530}, {DOI:White 2016:10.1016/j.ajhg.2016.01.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184170353del" "" "pathogenic" "" "0000518598" "0" "30" "3" "183885832" "183885832" "subst" "0.00521058" "01804" "DVL3_000005" "g.183885832A>G" "" "" "" "DVL3(NM_004423.3):c.1477A>G (p.(Ile493Val)), DVL3(NM_004423.4):c.1477A>G (p.I493V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184168044A>G" "" "likely benign" "" "0000518599" "0" "30" "3" "183887986" "183887986" "subst" "4.22426E-6" "02327" "AP2M1_000002" "g.183887986G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184170198G>C" "" "likely benign" "" "0000518600" "0" "10" "3" "183888015" "183888015" "subst" "0.0186315" "02327" "AP2M1_000003" "g.183888015G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184170227G>A" "" "benign" "" "0000518601" "0" "30" "3" "183888018" "183888018" "subst" "0" "02327" "AP2M1_000004" "g.183888018G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184170230G>A" "" "likely benign" "" "0000694803" "21" "90" "3" "183888141" "183888141" "del" "0" "00006" "DVL3_000001" "g.183888141del" "" "{PMID:White 2016:26924530}" "" "" "" "Germline" "" "" "0" "" "" "g.184170353del" "" "pathogenic (dominant)" "" "0000694804" "11" "90" "3" "183887880" "183887880" "del" "0" "00006" "DVL3_000003" "g.183887880del" "" "{PMID:White 2016:26924530}" "" "" "" "Germline" "" "" "0" "" "" "g.184170092del" "" "pathogenic (dominant)" "" "0000694805" "0" "90" "3" "183888105" "183888105" "subst" "0" "00006" "DVL3_000006" "g.183888105A>G" "" "{PMID:White 2016:26924530}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.184170317A>G" "" "pathogenic (dominant)" "" "0000694806" "0" "90" "3" "183888106" "183888106" "subst" "0" "00006" "DVL3_000004" "g.183888106G>A" "" "{PMID:White 2016:26924530}" "" "" "" "De novo" "" "" "0" "" "" "g.184170318G>A" "" "pathogenic (dominant)" "" "0000694807" "0" "90" "3" "183888108" "183888108" "del" "0" "00006" "DVL3_000002" "g.183888108del" "" "{PMID:White 2016:26924530}" "" "" "" "De novo" "" "" "0" "" "" "g.184170320del" "" "pathogenic (dominant)" "" "0000801090" "0" "50" "3" "183881500" "183881500" "subst" "0" "02327" "DVL3_000007" "g.183881500C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000844657" "0" "50" "3" "183882293" "183882293" "subst" "0" "00006" "DVL3_000008" "g.183882293G>A" "" "{PMID:Rai 2021:33496066}" "" "" "ACMG BP1, PS2, PP3" "De novo" "" "" "0" "" "" "g.184164505G>A" "" "VUS" "" "0000850186" "0" "50" "3" "183873424" "183873424" "subst" "0" "01943" "DVL3_000009" "g.183873424A>G" "" "" "" "DVL3(NM_004423.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850187" "0" "50" "3" "183888535" "183888535" "subst" "0" "02325" "AP2M1_000006" "g.183888535G>A" "" "" "" "DVL3(NM_004423.4):c.2143G>A (p.V715M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885648" "0" "30" "3" "183884780" "183884780" "subst" "0.00192265" "02326" "DVL3_000010" "g.183884780G>A" "" "" "" "DVL3(NM_004423.4):c.1198+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885649" "0" "10" "3" "183885832" "183885832" "subst" "0.00521058" "02326" "DVL3_000005" "g.183885832A>G" "" "" "" "DVL3(NM_004423.3):c.1477A>G (p.(Ile493Val)), DVL3(NM_004423.4):c.1477A>G (p.I493V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962568" "0" "50" "3" "183885787" "183885787" "subst" "0" "02327" "DVL3_000011" "g.183885787C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975680" "0" "30" "3" "183874597" "183874597" "subst" "0" "01804" "DVL3_000012" "g.183874597C>A" "" "" "" "DVL3(NM_004423.4):c.161+1013C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975681" "0" "30" "3" "183882161" "183882161" "subst" "4.48383E-5" "01804" "DVL3_000013" "g.183882161G>A" "" "" "" "DVL3(NM_004423.4):c.338G>A (p.(Arg113Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975682" "0" "30" "3" "183883253" "183883253" "subst" "0.000162448" "01804" "DVL3_000014" "g.183883253A>G" "" "" "" "DVL3(NM_004423.4):c.737A>G (p.(Asn246Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975683" "0" "30" "3" "183883933" "183883933" "subst" "2.44151E-5" "01804" "DVL3_000015" "g.183883933C>T" "" "" "" "DVL3(NM_004423.4):c.783C>T (p.(Gly261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975684" "0" "50" "3" "183885391" "183885391" "subst" "0" "01804" "DVL3_000016" "g.183885391A>T" "" "" "" "DVL3(NM_004423.4):c.1222A>T (p.(Ile408Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975685" "0" "30" "3" "183896002" "183896002" "subst" "3.77735E-5" "01804" "AP2M1_000007" "g.183896002G>A" "" "" "" "AP2M1(NM_001311198.2):c.144-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993466" "0" "50" "3" "183887926" "183887926" "subst" "4.09557E-6" "01804" "AP2M1_000009" "g.183887926C>T" "" "" "" "DVL3(NM_004423.3):c.1631C>T (p.(Pro544Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993467" "0" "50" "3" "183888370" "183888370" "subst" "0" "02325" "AP2M1_000010" "g.183888370C>A" "" "" "" "DVL3(NM_004423.4):c.1978C>A (p.P660T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993468" "0" "30" "3" "183894855" "183894855" "subst" "4.0938E-6" "01804" "AP2M1_000011" "g.183894855G>C" "" "" "" "AP2M1(NM_004068.3):c.74G>C (p.(Gly25Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024748" "0" "50" "3" "183888405" "183888437" "del" "0" "02325" "AP2M1_000013" "g.183888405_183888437del" "" "" "" "DVL3(NM_004423.4):c.2013_2045del (p.P673_P683del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033830" "0" "50" "3" "183881505" "183881506" "del" "0" "01804" "DVL3_000017" "g.183881505_183881506del" "" "" "" "DVL3(NM_004423.4):c.222_223del (p.(Ser76Leufs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033831" "0" "30" "3" "183882974" "183882976" "del" "0" "01804" "DVL3_000018" "g.183882974_183882976del" "" "" "" "DVL3(NM_004423.4):c.673_675del (p.(Lys225del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033832" "0" "30" "3" "183884444" "183884444" "subst" "0.000203237" "01804" "DVL3_000019" "g.183884444G>A" "" "" "" "DVL3(NM_004423.4):c.1031G>A (p.(Cys344Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033833" "0" "50" "3" "183884658" "183884658" "subst" "0" "01804" "DVL3_000020" "g.183884658A>C" "" "" "" "DVL3(NM_004423.4):c.1093A>C (p.(Thr365Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033834" "0" "50" "3" "183885796" "183885796" "subst" "1.21819E-5" "01804" "DVL3_000021" "g.183885796G>A" "" "" "" "DVL3(NM_004423.4):c.1441G>A (p.(Val481Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051590" "0" "30" "3" "183873428" "183873428" "subst" "9.08752E-6" "01804" "DVL3_000022" "g.183873428G>C" "" "" "" "DVL3(NM_004423.4):c.5G>C (p.(Gly2Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051591" "0" "50" "3" "183888236" "183888244" "dup" "0" "01804" "AP2M1_000014" "g.183888236_183888244dup" "" "" "" "DVL3(NM_004423.4):c.1844_1852dup (p.(Gly615_Arg617dup))" "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 DVL3 ## Count = 37 "{{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}}" "0000097047" "00006785" "90" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Ala529Profs*139)" "" "0000097050" "00006785" "90" "1715" "-1" "1715" "-1" "c.1715-1G>A" "r.spl?" "p.?" "" "0000097052" "00006785" "90" "1716" "0" "1716" "0" "c.1716del" "r.1716del" "p.Ser573Valfs*95" "" "0000097053" "00006785" "90" "1749" "0" "1749" "0" "c.1749del" "r.(?)" "p.(Ser583Argfs*85)" "" "0000518598" "00006785" "30" "1477" "0" "1477" "0" "c.1477A>G" "r.(?)" "p.(Ile493Val)" "" "0000518599" "00006785" "30" "1691" "0" "1691" "0" "c.1691G>C" "r.(?)" "p.(Ser564Thr)" "" "0000518600" "00006785" "10" "1714" "6" "1714" "6" "c.1714+6G>A" "r.(=)" "p.(=)" "" "0000518601" "00006785" "30" "1714" "9" "1714" "9" "c.1714+9G>A" "r.(=)" "p.(=)" "" "0000694803" "00006785" "90" "1749" "0" "1749" "0" "c.1749del" "r.(?)" "p.(Ser583Argfs*85)" "" "0000694804" "00006785" "90" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Ala529Profs*139)" "" "0000694805" "00006785" "90" "1715" "-2" "1715" "-2" "c.1715-2A>G" "r.spl" "p.?" "" "0000694806" "00006785" "90" "1715" "-1" "1715" "-1" "c.1715-1G>A" "r.spl" "p.?" "" "0000694807" "00006785" "90" "1716" "0" "1716" "0" "c.1716del" "r.(?)" "p.(Ser573Valfs*95)" "" "0000801090" "00006785" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Trp)" "" "0000844657" "00006785" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000850186" "00006785" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000850187" "00006785" "50" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Val715Met)" "" "0000885648" "00006785" "30" "1198" "17" "1198" "17" "c.1198+17G>A" "r.(=)" "p.(=)" "" "0000885649" "00006785" "10" "1477" "0" "1477" "0" "c.1477A>G" "r.(?)" "p.(Ile493Val)" "" "0000962568" "00006785" "50" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Cys)" "" "0000975680" "00006785" "30" "161" "1013" "161" "1013" "c.161+1013C>A" "r.(=)" "p.(=)" "" "0000975681" "00006785" "30" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000975682" "00006785" "30" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Asn246Ser)" "" "0000975683" "00006785" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(=)" "" "0000975684" "00006785" "50" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Ile408Phe)" "" "0000975685" "00006785" "30" "9610" "0" "9610" "0" "c.*7459G>A" "r.(=)" "p.(=)" "" "0000993466" "00006785" "50" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Pro544Leu)" "" "0000993467" "00006785" "50" "1978" "0" "1978" "0" "c.1978C>A" "r.(?)" "p.(Pro660Thr)" "" "0000993468" "00006785" "30" "8463" "0" "8463" "0" "c.*6312G>C" "r.(=)" "p.(=)" "" "0001024748" "00006785" "50" "2013" "0" "2045" "0" "c.2013_2045del" "r.(?)" "p.(Pro673_Pro683del)" "" "0001033830" "00006785" "50" "222" "0" "223" "0" "c.222_223del" "r.(?)" "p.(Ser76Leufs*6)" "" "0001033831" "00006785" "30" "673" "0" "675" "0" "c.673_675del" "r.(?)" "p.(Lys225del)" "" "0001033832" "00006785" "30" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Cys344Tyr)" "" "0001033833" "00006785" "50" "1093" "0" "1093" "0" "c.1093A>C" "r.(?)" "p.(Thr365Pro)" "" "0001033834" "00006785" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Val481Ile)" "" "0001051590" "00006785" "30" "5" "0" "5" "0" "c.5G>C" "r.(?)" "p.(Gly2Ala)" "" "0001051591" "00006785" "50" "1844" "0" "1852" "0" "c.1844_1852dup" "r.(?)" "p.(Gly615_Arg617dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000065371" "0000097047" "0000065375" "0000097050" "0000065380" "0000097052" "0000065382" "0000097053" "0000313070" "0000694803" "0000313071" "0000694804" "0000313072" "0000694805" "0000313073" "0000694806" "0000313074" "0000694807" "0000407847" "0000844657"