### 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" "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}}" "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 = 11 "{{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" "00471497" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "357975" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00065218" "00577" "00065222" "00577" "00065226" "00577" "00065230" "00577" "00311898" "00180" "00311899" "00180" "00311900" "00180" "00311901" "00180" "00311902" "00180" "00406604" "00180" "00471497" "05848" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 00577, 05848 ## Count = 11 "{{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" "0000356304" "05848" "00471497" "01164" "Unknown" "00y02m" "Absent thumb, Abnormal shoulder morphology, Hypotonia, Limited elbow movement, Limitation of knee mobility, Abnormal tibia morphology, Abnormality of the face, Abnormality of the outer ear, Abnormal thumb morphology" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{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" "0000473167" "00471497" "1" "01164" "01164" "2025-12-24 12:13:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000065371" "DVL3" "0000065375" "DVL3" "0000065380" "DVL3" "0000065382" "DVL3" "0000313070" "DVL3" "0000313071" "DVL3" "0000313072" "DVL3" "0000313073" "DVL3" "0000313074" "DVL3" "0000473167" "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 = 39 "{{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" "" "0001061945" "0" "50" "3" "183882279" "183882279" "subst" "0" "01164" "DVL3_000023" "g.183882279G>T" "" "" "" "" "ACMG/AMP: PVS1_moderate, PM2_supporting; spliceAI predicts in-frame deletion of first 7 AA from exon 4. Established pathomechanism in DVL3 are frameshifting variants in the NMD-escaping 3´end of the gene." "Germline" "?" "" "0" "" "" "g.184164491G>T" "VCV002654305.19" "VUS" "ACMG" "0001064125" "0" "50" "3" "183894737" "183894737" "subst" "0" "01804" "AP2M1_000015" "g.183894737A>G" "" "" "" "AP2M1(NM_004068.4):c.-43-2A>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 DVL3 ## Count = 39 "{{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)" "" "0001061945" "00006785" "50" "354" "-1" "354" "-1" "c.354-1G>T" "r.spl" "p.?" "3i" "0001064125" "00006785" "50" "8345" "0" "8345" "0" "c.*6194A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000065371" "0000097047" "0000065375" "0000097050" "0000065380" "0000097052" "0000065382" "0000097053" "0000313070" "0000694803" "0000313071" "0000694804" "0000313072" "0000694805" "0000313073" "0000694806" "0000313074" "0000694807" "0000407847" "0000844657" "0000473167" "0001061945"