### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DVL1) # 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}}" "DVL1" "dishevelled, dsh homolog 1 (Drosophila)" "1" "p36" "unknown" "NG_008048.2" "UD_132118960651" "" "https://www.LOVD.nl/DVL1" "" "1" "3084" "1855" "601365" "1" "1" "1" "1" "Change to MANE transcript NM_001330311.2.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DVL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-02 08:40:30" "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}}" "00006783" "DVL1" "dishevelled, dsh homolog 1 (Drosophila)" "001" "NM_004421.2" "" "NP_004412.2" "" "" "" "-47" "2877" "2013" "1284492" "1270658" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00577" "DRS" "Robinow syndrome, autosomal dominant (DRS)" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04454" "DRS2" "Robinow, autosomal dominant syndrome, type 2 (DRS2)" "AD" "616331" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DVL1" "00577" "DVL1" "04454" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00295333" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295334" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311863" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "BAB9126" "00311864" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "BAB9128" "00311865" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "BAB9300" "00311866" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "BAB9129" "00311867" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "16420" "00311868" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "BAB9236" "00311885" "" "" "" "1" "" "00006" "{PMID:White 2015:25817016}" "" "F" "" "" "" "0" "" "" "" "BAB4073" "00311886" "" "" "" "1" "" "00006" "{PMID:White 2015:25817016}" "" "F" "" "" "" "0" "" "" "" "BAB4878" "00311887" "" "" "" "1" "" "00006" "{PMID:White 2015:25817016}" "" "M" "" "" "" "0" "" "" "" "BAB5264" "00311888" "" "" "" "1" "" "00006" "{PMID:White 2015:25817016}" "" "F" "" "" "" "0" "" "" "" "16462" "00311889" "" "" "" "2" "" "00006" "{PMID:White 2015:25817016}" "family, monozygotic twins" "M" "" "" "" "0" "" "" "" "16516" "00311890" "" "" "00311889" "1" "" "00006" "{PMID:White 2015:25817016}" "2nd twin" "M" "" "" "" "0" "" "" "" "16517" "00311891" "" "" "" "1" "" "00006" "{PMID:White 2015:25817016}" "" "M" "" "Turkey" "" "0" "" "" "" "17604" "00311892" "" "" "" "1" "" "00006" "{PMID:White 2015:25817016}" "" "F" "" "Portugal" "" "0" "" "" "Portugal;Northern Europe" "30526" "00311894" "" "" "" "1" "" "00006" "{PMID:Bunn 2015:25817014}" "" "" "" "New Zealand" "" "0" "" "" "" "Pat1" "00311895" "" "" "" "1" "" "00006" "{PMID:Bunn 2015:25817014}" "" "" "" "New Zealand" "" "0" "" "" "" "Pat2" "00311896" "" "" "" "1" "" "00006" "{PMID:Bunn 2015:25817014}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat3" "00311897" "" "" "" "1" "" "00006" "{PMID:White 2016:26924530}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "Turkey" "" "0" "" "" "" "BAB8062" "00394787" "" "" "" "1" "" "00006" "{PMID:Zhang 2021:33048444}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "United States" "" "0" "" "" "" "BAB10151" "00406605" "" "" "" "1" "" "00006" "{PMID:Rai 2021:33496066}" "3-generation family, 1 affected" "F" "" "India" "" "0" "" "" "" "Pat4" "00413455" "" "" "" "1" "" "03820" "{PMID:Hu 2022:35137569}" "" "?" "no" "China" "" "0" "" "" "" "patient" "00435229" "" "" "" "1" "" "03820" "{PMID:Tsai 2023:36830778}" "" "M" "" "" "" "0" "" "" "" "Pat10" "00452267" "" "" "" "1" "" "03820" "{PMID:Smith 2024:38982229}, {DOI:Smith 2024:10.1002/pd.6632}" "" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00295333" "00198" "00295334" "00198" "00311863" "00180" "00311864" "00180" "00311865" "00180" "00311866" "00180" "00311867" "00180" "00311868" "00180" "00311885" "00180" "00311886" "00180" "00311887" "00180" "00311888" "00180" "00311889" "00180" "00311890" "00180" "00311891" "00180" "00311892" "00180" "00311894" "00180" "00311895" "00180" "00311896" "00180" "00311897" "00180" "00394787" "00577" "00406605" "00180" "00413455" "04454" "00435229" "04454" "00452267" "04454" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 00198, 00577, 04454 ## Count = 22 "{{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}}" "0000237111" "00180" "00311863" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237112" "00180" "00311864" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237113" "00180" "00311865" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237114" "00180" "00311866" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237115" "00180" "00311867" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237116" "00180" "00311868" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237132" "00180" "00311885" "00006" "Familial, autosomal dominant" "9y" "height 10%; OFC SD+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; cleft soft palate; bilobed tongue; dental anomalies; short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; sacral dimple; no renal anomalies; no inguinal hernia; heart defects; umbilical hernia; no seizures; no hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237133" "00180" "00311886" "00006" "Familial, autosomal dominant" "20y" "height 17%; OFC SD+2.5; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; upslanting palpebral fissures; long eyelashes; no prominent eyes; no blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no renal anomalies; no inguinal hernia; heart defects; umbilical hernia; no seizures; no hearing loss; obstructive sleep apnea; no absent anterior nasal spine; increased bone density (skull); no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237134" "00180" "00311887" "00006" "Familial, autosomal dominant" "28m" "height <3%; OFC SD>+2; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; no pectus anomaly; cryptorchidism; micropenis; no renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; no seizures; hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237135" "00180" "00311888" "00006" "Familial, autosomal dominant" "20y" "height 70%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; epicanthal folds; anteverted nares; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no bilobed tongue; dental anomalies; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; nail dysplasia; broad first toe; scoliosis and/or kyphosis; agenesis of the labia minora; small clitoris; hearing loss; obstructive sleep apnea; absent anterior nasal spine; increased bone density (skull)" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237136" "00180" "00311889" "00006" "Familial, autosomal dominant" "21y" "height 90%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237137" "00180" "00311890" "00006" "Familial, autosomal dominant" "21y" "height 75%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; no renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237138" "00180" "00311891" "00006" "Familial, autosomal dominant" "15y6m" "height 80%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; epicanthal folds; no anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; no brachydactyly; clinodactyly; camptodactyly; no broad thumb; no nail dysplasia; hypoplastic phalanges; fetal finger and/or toe pads; broad first toe; scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; increased bone density (skull); no omphalocele; no hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237139" "00180" "00311892" "00006" "Familial, autosomal dominant" "18y" "height <3%; OFC SD>+6; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; no blue sclerae; wide, low nasal bridge; short nose; no long philtrum; no gingival hyperplasia; no cleft soft palate; no bilobed tongue; dental anomalies; short neck; no micrognathia; no abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; scoliosis and/or kyphosis; no pectus anomaly; no sacral dimple; no renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; hearing loss; no obstructive sleep apnea; absent anterior nasal spine; no omphalocele; hepatomegaly" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237143" "00180" "00311894" "00006" "Isolated (sporadic)" "" "hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; no cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237144" "00180" "00311895" "00006" "Isolated (sporadic)" "" "hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237145" "00180" "00311896" "00006" "Isolated (sporadic)" "" "hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; no camptodactyly, no brachydactyly; no gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000237146" "00180" "00311897" "00006" "Isolated (sporadic)" "" "height <3%; macrocephaly, frontal bossing, hypertelorism, upslanting palpebral fissures, prominent eyes, anteverted nares, depressed nasal bridge, short nose, gingival hyperplasia, cleft soft palate, dental anomalies, micrognathia, mesomelia, brachydactyly, clinodactyly, no bifid phalanges, scoliosis or kyphosis, pectus anomaly, increased bone density (skull), no hearing loss; sacral dimple, dimple between scrotum and anus; absent anterior nasal spine" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000299079" "00180" "00406605" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" "0000305428" "04454" "00413455" "03820" "Isolated (sporadic)" "" "Developmental delay, protruding forehead, hypertelorism, depressed nasal bridge, thick upper lip, mildly high palatal arch, abnormal alveolar dysplasia, curled tragus, and slightly lower ear position . Limited hip extension of both lower extremities Low weight (Z‐score − 1.49), short stature (Z‐score − 2.36)." "" "" "" "" "" "" "" "" "" "" "" "0000325428" "04454" "00435229" "03820" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Robinow syndrome" "" "" "0000340871" "04454" "00452267" "03820" "Isolated (sporadic)" "" "macrocephaly\r\nShort stature\r\nheart defect" "" "" "" "" "" "" "" "" "DRS2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000296501" "00295333" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296502" "00295334" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000313035" "00311863" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313036" "00311864" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313037" "00311865" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313038" "00311866" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313039" "00311867" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313040" "00311868" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313057" "00311885" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "WES" "0000313058" "00311886" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "WES" "0000313059" "00311887" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "WES" "0000313060" "00311888" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "" "0000313061" "00311889" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "" "0000313062" "00311890" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "" "0000313063" "00311891" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "" "0000313064" "00311892" "1" "00006" "00006" "2020-09-29 22:21:18" "" "" "SEQ" "DNA" "" "" "0000313066" "00311894" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WES" "0000313067" "00311895" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "" "0000313068" "00311896" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "SEQ" "DNA" "" "" "0000313069" "00311897" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000396034" "00394787" "1" "00006" "00006" "2021-12-02 08:47:11" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000407848" "00406605" "1" "00006" "00006" "2022-04-01 16:51:31" "" "" "SEQ-NG" "DNA" "" "WES" "0000414734" "00413455" "1" "03820" "03820" "2022-07-18 21:01:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000436707" "00435229" "1" "03820" "03820" "2023-06-19 09:49:47" "" "" "SEQ-NG" "DNA" "" "" "0000453870" "00452267" "1" "03820" "03820" "2024-07-12 15:38:07" "" "" "SEQ-NG" "DNA" "" "exome sequencing with bioinformatic filtering for skeletal dysplasia panel (522 genes)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000313035" "DVL1" "0000313036" "DVL1" "0000313037" "DVL1" "0000313038" "DVL1" "0000313039" "DVL1" "0000313040" "DVL1" "0000313057" "DVL1" "0000313058" "DVL1" "0000313059" "DVL1" "0000313060" "DVL1" "0000313061" "DVL1" "0000313062" "DVL1" "0000313063" "DVL1" "0000313064" "DVL1" "0000313066" "DVL1" "0000313067" "DVL1" "0000313068" "DVL1" "0000313069" "DVL1" "0000396034" "DVL1" ## 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 = 87 "{{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}}" "0000316219" "0" "50" "1" "1268367" "1268367" "subst" "0.000102174" "01943" "TAS1R3_000005" "g.1268367G>A" "" "" "" "TAS1R3(NM_152228.3):c.1342G>A (p.G448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1332987G>A" "" "VUS" "" "0000316220" "0" "50" "1" "1267608" "1267608" "subst" "0.000195596" "01943" "TAS1R3_000003" "g.1267608C>T" "" "" "" "TAS1R3(NM_152228.3):c.697C>T (p.R233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1332228C>T" "" "VUS" "" "0000320420" "0" "50" "1" "1268344" "1268344" "subst" "0.0015248" "01804" "TAS1R3_000004" "g.1268344T>A" "" "" "" "TAS1R3(NM_152228.1):c.1319T>A (p.(Leu440Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1332964T>A" "" "VUS" "" "0000502851" "0" "30" "1" "1267040" "1267040" "subst" "0.000357583" "01804" "TAS1R3_000006" "g.1267040T>G" "" "" "" "TAS1R3(NM_152228.1):c.214T>G (p.(Trp72Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1331660T>G" "" "likely benign" "" "0000502856" "0" "10" "1" "1269432" "1269432" "subst" "0.00124286" "01804" "TAS1R3_000010" "g.1269432C>A" "" "" "" "TAS1R3(NM_152228.1):c.2147C>A (p.(Thr716Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1334052C>A" "" "benign" "" "0000502857" "0" "30" "1" "1271559" "1271559" "subst" "1.12066E-5" "01804" "TAS1R3_000011" "g.1271559A>G" "" "" "" "DVL1(NM_004421.2):c.1976T>C (p.(Met659Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1336179A>G" "" "likely benign" "" "0000502858" "0" "30" "1" "1271853" "1271853" "subst" "0.0132791" "01804" "TAS1R3_000012" "g.1271853G>C" "" "" "" "DVL1(NM_001330311.1):c.1757C>G (p.(Pro586Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1336473G>C" "" "likely benign" "" "0000502860" "0" "30" "1" "1275198" "1275198" "subst" "4.1457E-6" "01804" "TAS1R3_000014" "g.1275198G>C" "" "" "" "DVL1(NM_004421.2):c.910-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1339818G>C" "" "likely benign" "" "0000502862" "0" "30" "1" "1275510" "1275510" "subst" "2.03431E-5" "01943" "TAS1R3_000016" "g.1275510G>A" "" "" "" "DVL1(NM_001330311.2):c.817C>T (p.R273C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1340130G>A" "" "likely benign" "" "0000502864" "0" "30" "1" "1277183" "1277183" "subst" "0.0146868" "01804" "DVL1_000007" "g.1277183C>T" "" "" "" "DVL1(NM_004421.2):c.469G>A (p.(Ala157Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1341803C>T" "" "likely benign" "" "0000502865" "0" "10" "1" "1277184" "1277184" "subst" "0.00122543" "01804" "DVL1_000008" "g.1277184G>A" "" "" "" "DVL1(NM_001330311.1):c.468C>T (p.(Ala156=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1341804G>A" "" "benign" "" "0000604746" "0" "30" "1" "1273376" "1273376" "subst" "0" "01943" "TAS1R3_000018" "g.1273376G>C" "" "" "" "DVL1(NM_001330311.2):c.1695C>G (p.T565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1337996G>C" "" "likely benign" "" "0000604747" "0" "30" "1" "1273819" "1273819" "subst" "0" "01804" "TAS1R3_000019" "g.1273819G>A" "" "" "" "DVL1(NM_004421.2):c.1265-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1338439G>A" "" "likely benign" "" "0000653190" "1" "90" "1" "1273490" "1273490" "del" "0" "03575" "DVL1_000009" "g.1273490del" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044836}" "Germline" "" "rs797044836" "0" "" "" "g.1338110del" "" "pathogenic" "" "0000653191" "1" "70" "1" "1273491" "1273503" "del" "0" "03575" "DVL1_000010" "g.1273491_1273503del" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044836}" "Germline" "" "rs797044836" "0" "" "" "g.1338111_1338123del" "" "likely pathogenic" "" "0000694761" "0" "90" "1" "1273380" "1273384" "dup" "0" "00006" "DVL1_000013" "g.1273380_1273384dup" "" "{PMID:White 2018:29276006}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.1338000_1338004dup" "" "pathogenic (dominant)" "" "0000694762" "0" "90" "1" "1273380" "1273384" "dup" "0" "00006" "DVL1_000013" "g.1273380_1273384dup" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.1338000_1338004dup" "" "pathogenic (dominant)" "" "0000694763" "0" "90" "1" "1273375" "1273375" "del" "0" "00006" "DVL1_000011" "g.1273375del" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.1337995del" "" "pathogenic (dominant)" "" "0000694764" "0" "90" "1" "1273491" "1273503" "del" "0" "00006" "DVL1_000010" "g.1273491_1273503del" "" "{PMID:White 2018:29276006}" "" "" "" "De novo" "" "" "0" "" "" "g.1338111_1338123del" "" "pathogenic (dominant)" "" "0000694765" "0" "90" "1" "1273487" "1273499" "del" "0" "00006" "DVL1_000021" "g.1273487_1273499del" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.1338107_1338119del" "" "pathogenic (dominant)" "" "0000694766" "0" "90" "1" "1273375" "1273390" "del" "0" "00006" "DVL1_000012" "g.1273375_1273390del" "" "{PMID:White 2018:29276006}" "" "" "" "De novo" "" "" "0" "" "" "g.1337995_1338010del" "" "pathogenic (dominant)" "" "0000694787" "0" "90" "1" "1273425" "1273426" "delins" "0" "00006" "DVL1_000016" "g.1273425_1273426delinsG" "" "{PMID:White 2015:25817016}" "" "" "" "De novo" "" "" "0" "" "" "g.1338045_1338046delinsG" "" "pathogenic (dominant)" "" "0000694788" "0" "90" "1" "1273487" "1273499" "del" "0" "00006" "DVL1_000021" "g.1273487_1273499del" "" "{PMID:White 2015:25817016}" "" "" "" "De novo" "" "" "0" "" "" "g.1338107_1338119del" "" "pathogenic (dominant)" "" "0000694789" "0" "90" "1" "1273477" "1273477" "del" "0" "00006" "DVL1_000020" "g.1273477del" "" "{PMID:White 2015:25817016}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1338097del" "" "pathogenic (dominant)" "" "0000694790" "0" "90" "1" "1273487" "1273499" "del" "0" "00006" "DVL1_000021" "g.1273487_1273499del" "" "{PMID:White 2015:25817016}" "" "" "" "De novo" "" "" "0" "" "" "g.1338107_1338119del" "" "pathogenic (dominant)" "" "0000694791" "0" "90" "1" "1273490" "1273490" "del" "0" "00006" "DVL1_000009" "g.1273490del" "" "{PMID:White 2015:25817016}" "" "" "" "De novo" "" "" "0" "" "" "g.1338110del" "" "pathogenic (dominant)" "" "0000694792" "0" "90" "1" "1273490" "1273490" "del" "0" "00006" "DVL1_000009" "g.1273490del" "" "{PMID:White 2015:25817016}" "" "" "" "De novo" "" "" "0" "" "" "g.1338110del" "" "pathogenic (dominant)" "" "0000694793" "0" "90" "1" "1273381" "1273381" "del" "0" "00006" "DVL1_000014" "g.1273381del" "" "{PMID:White 2015:25817016}" "" "" "" "De novo" "" "" "0" "" "" "g.1338001del" "" "pathogenic (dominant)" "" "0000694794" "0" "90" "1" "1273469" "1273469" "del" "0" "00006" "DVL1_000018" "g.1273469del" "" "{PMID:White 2015:25817016}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1338089del" "" "pathogenic (dominant)" "" "0000694799" "0" "90" "1" "1273477" "1273477" "del" "0" "00006" "DVL1_000020" "g.1273477del" "" "{PMID:Bunn 2015:25817014}" "" "" "" "De novo" "" "" "0" "" "" "g.1338097del" "" "pathogenic (dominant)" "" "0000694800" "0" "90" "1" "1273438" "1273438" "del" "0" "00006" "DVL1_000017" "g.1273438del" "" "{PMID:Bunn 2015:25817014}" "" "" "" "De novo" "" "" "0" "" "" "g.1338058del" "" "pathogenic (dominant)" "" "0000694801" "0" "90" "1" "1273413" "1273420" "delins" "0" "00006" "DVL1_000015" "g.1273413_1273420delinsC" "" "{PMID:Bunn 2015:25817014}" "" "" "" "De novo" "" "" "0" "" "" "g.1338033_1338040delinsC" "" "pathogenic (dominant)" "" "0000694802" "0" "90" "1" "1273474" "1273474" "del" "0" "00006" "DVL1_000019" "g.1273474del" "" "{PMID:White 2016:26924530}" "" "1522delC" "" "De novo" "" "" "0" "" "" "g.1338094del" "" "pathogenic (dominant)" "" "0000716763" "0" "30" "1" "1271895" "1271895" "subst" "0" "02327" "TAS1R3_000020" "g.1271895C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798747" "0" "30" "1" "1271606" "1271606" "subst" "8.60209E-5" "01943" "TAS1R3_000021" "g.1271606G>A" "" "" "" "DVL1(NM_001330311.2):c.2004C>T (p.A668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798748" "0" "50" "1" "1273754" "1273754" "subst" "0" "02325" "TAS1R3_000022" "g.1273754G>A" "" "" "" "DVL1(NM_004421.3):c.1327C>T (p.R443W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798749" "0" "30" "1" "1275804" "1275804" "subst" "0.000307902" "01804" "DVL1_000022" "g.1275804G>C" "" "" "" "DVL1(NM_004421.2):c.685C>G (p.(Arg229Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798750" "0" "30" "1" "1277162" "1277162" "subst" "0.00015722" "01804" "DVL1_000023" "g.1277162T>C" "" "" "" "DVL1(NM_004421.2):c.490A>G (p.(Arg164Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798751" "0" "30" "1" "1277442" "1277442" "subst" "9.83488E-5" "01804" "DVL1_000024" "g.1277442G>A" "" "" "" "DVL1(NM_004421.2):c.457C>T (p.(Arg153Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798752" "0" "30" "1" "1277735" "1277735" "subst" "0.0214473" "01804" "DVL1_000025" "g.1277735G>A" "" "" "" "DVL1(NM_001330311.1):c.362+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000827596" "0" "90" "1" "1273442" "1273442" "del" "0" "00006" "DVL1_000026" "g.1273442del" "" "{PMID:Zhang 2021:33048444}" "" "c.1556delG" "ACMG PVS1, PM1, PM2, PM6, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.1338062del" "" "pathogenic (dominant)" "ACMG" "0000844658" "0" "90" "1" "1273482" "1273482" "del" "0" "00006" "DVL1_000027" "g.1273482del" "" "{PMID:Rai 2021:33496066}" "" "" "ACMG PP3, PP4, PM2, PM4, PM1, PM6, PS1" "Germline/De novo (untested)" "" "" "0" "" "" "g.1338102del" "" "pathogenic (dominant)" "" "0000848276" "0" "30" "1" "1275693" "1275695" "del" "0" "01804" "DVL1_000028" "g.1275693_1275695del" "" "" "" "DVL1(NM_001330311.1):c.707_709del (p.(Ser236del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856936" "0" "30" "1" "1273790" "1273790" "subst" "0.00208911" "01943" "TAS1R3_000023" "g.1273790T>C" "" "" "" "DVL1(NM_001330311.2):c.1366A>G (p.T456A), DVL1(NM_004421.2):c.1291A>G (p.(Thr431Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870809" "0" "70" "1" "1274742" "1274742" "subst" "0" "03779" "DVL1_000029" "g.1274742C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000870812" "0" "50" "1" "1274742" "1274742" "subst" "0" "03779" "DVL1_000029" "g.1274742C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000872442" "0" "77" "1" "1273377" "1273377" "del" "0" "03820" "DVL1_000030" "g.1273377del" "" "{PMID:Hu 2022:35137569}" "" "1620delC" "" "De novo" "" "" "0" "" "" "g.1337997del" "" "VUS" "ACMG" "0000882742" "0" "30" "1" "1273790" "1273790" "subst" "0.00208911" "01804" "TAS1R3_000023" "g.1273790T>C" "" "" "" "DVL1(NM_001330311.2):c.1366A>G (p.T456A), DVL1(NM_004421.2):c.1291A>G (p.(Thr431Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882743" "0" "50" "1" "1273998" "1273998" "subst" "4.09108E-6" "01804" "TAS1R3_000024" "g.1273998T>C" "" "" "" "DVL1(NM_004421.2):c.1168A>G (p.(Met390Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882744" "0" "30" "1" "1275200" "1275200" "subst" "0.00602565" "01804" "TAS1R3_000025" "g.1275200G>A" "" "" "" "DVL1(NM_004421.2):c.910-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910765" "0" "30" "1" "1277168" "1277168" "subst" "0" "01804" "DVL1_000031" "g.1277168G>A" "" "" "" "DVL1(NM_004421.2):c.484C>T (p.(His162Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922934" "0" "30" "1" "1274771" "1274771" "subst" "4.74982E-5" "01804" "TAS1R3_000026" "g.1274771G>A" "" "" "" "DVL1(NM_004421.2):c.1103C>T (p.(Ala368Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922935" "0" "30" "1" "1277833" "1277833" "subst" "0.00677514" "01804" "DVL1_000032" "g.1277833G>A" "" "" "" "DVL1(NM_001330311.1):c.272C>T (p.(Ala91Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927829" "0" "77" "1" "1273413" "1273425" "del" "0" "03820" "DVL1_000033" "g.1273413_1273425del" "" "{PMID:Tsai 2023:36830778}" "" "" "" "De novo" "" "" "0" "" "" "g.1338033_1338045del" "" "pathogenic (dominant)" "" "0000927999" "0" "30" "1" "1267495" "1267495" "subst" "0.000335313" "01804" "TAS1R3_000027" "g.1267495C>T" "" "" "" "TAS1R3(NM_152228.1):c.584C>T (p.(Thr195Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928000" "0" "30" "1" "1271871" "1271871" "subst" "5.49397E-5" "01804" "TAS1R3_000028" "g.1271871C>T" "" "" "" "DVL1(NM_001330311.1):c.1739G>A (p.(Arg580Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946953" "0" "30" "1" "1268311" "1268311" "subst" "0" "01804" "TAS1R3_000029" "g.1268311A>T" "" "" "" "TAS1R3(NM_152228.1):c.1286A>T (p.(Asn429Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946954" "0" "30" "1" "1289446" "1289446" "subst" "0.00235185" "01804" "DVL1_000034" "g.1289446C>T" "" "" "" "MXRA8(NM_001282582.1):c.1186G>A (p.(Asp396Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960423" "0" "30" "1" "1274019" "1274019" "subst" "5.35504E-5" "02325" "TAS1R3_000030" "g.1274019G>A" "" "" "" "DVL1(NM_004421.3):c.1147C>T (p.P383S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973262" "0" "50" "1" "1262302" "1262302" "subst" "6.09558E-5" "01804" "TAS1R3_000031" "g.1262302G>A" "" "" "" "CPTP(NM_001029885.2):c.12G>A (p.(Ser4=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973264" "0" "50" "1" "1277483" "1277483" "subst" "0" "01804" "DVL1_000035" "g.1277483G>A" "" "" "" "DVL1(NM_001330311.2):c.416C>T (p.(Ser139Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988638" "0" "77" "1" "1273414" "1273421" "dup" "0" "03820" "DVL1_000036" "g.1273414_1273421dup" "" "{PMID:Smith 2024:38982229}, {DOI:Smith 2024:10.1002/pd.6632}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1338034_1338041dup" "" "pathogenic (dominant)" "ACMG" "0000990202" "0" "30" "1" "1267539" "1267539" "subst" "0.000305857" "01804" "TAS1R3_000032" "g.1267539G>A" "" "" "" "TAS1R3(NM_152228.1):c.628G>A (p.(Ala210Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990203" "0" "30" "1" "1269021" "1269021" "subst" "8.64276E-5" "01804" "TAS1R3_000033" "g.1269021C>T" "" "" "" "TAS1R3(NM_152228.1):c.1736C>T (p.(Ala579Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990204" "0" "50" "1" "1271814" "1271814" "subst" "4.25866E-5" "01804" "TAS1R3_000034" "g.1271814C>T" "" "" "" "DVL1(NM_004421.2):c.1721G>A (p.(Gly574Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990205" "0" "50" "1" "1271859" "1271859" "subst" "0" "01804" "TAS1R3_000035" "g.1271859C>T" "" "" "" "DVL1(NM_004421.2):c.1676G>A (p.(Arg559Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990206" "0" "50" "1" "1273714" "1273714" "subst" "4.07309E-6" "01804" "TAS1R3_000036" "g.1273714C>T" "" "" "" "DVL1(NM_004421.2):c.1367G>A (p.(Arg456Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990207" "0" "50" "1" "1275161" "1275161" "subst" "8.16327E-6" "01804" "TAS1R3_000037" "g.1275161T>C" "" "" "" "DVL1(NM_004421.2):c.941A>G (p.(Asn314Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990208" "0" "50" "1" "1275477" "1275477" "subst" "4.07083E-6" "01804" "TAS1R3_000038" "g.1275477T>C" "" "" "" "DVL1(NM_004421.2):c.850A>G (p.(Met284Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990209" "0" "30" "1" "1275663" "1275663" "subst" "4.06722E-6" "01804" "TAS1R3_000039" "g.1275663T>C" "" "" "" "DVL1(NM_004421.2):c.733A>G (p.(Met245Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990210" "0" "30" "1" "1275863" "1275863" "subst" "0" "01804" "DVL1_000037" "g.1275863T>C" "" "" "" "DVL1(NM_004421.2):c.626A>G (p.(Gln209Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990211" "0" "50" "1" "1289226" "1289226" "subst" "0" "01804" "DVL1_000038" "g.1289226A>C" "" "" "" "MXRA8(NM_001282585.1):c.1321+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990212" "0" "50" "1" "1289293" "1289293" "subst" "0" "01804" "MXRA8_000001" "g.1289293A>T" "" "" "" "MXRA8(NM_001282585.1):c.1256T>A (p.(Ile413Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031150" "0" "50" "1" "1269038" "1269038" "subst" "9.05797E-5" "01804" "TAS1R3_000040" "g.1269038G>A" "" "" "" "TAS1R3(NM_152228.3):c.1753G>A (p.(Ala585Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031151" "0" "30" "1" "1271598" "1271598" "subst" "1.96068E-5" "01804" "TAS1R3_000041" "g.1271598G>A" "" "" "" "DVL1(NM_001330311.2):c.2012C>T (p.(Pro671Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031152" "0" "50" "1" "1271648" "1271648" "dup" "0" "01804" "TAS1R3_000042" "g.1271648dup" "" "" "" "DVL1(NM_001330311.2):c.1968dup (p.(Pro657Alafs*50))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031153" "0" "30" "1" "1273479" "1273479" "subst" "0.000134083" "01804" "TAS1R3_000043" "g.1273479G>A" "" "" "" "DVL1(NM_001330311.2):c.1592C>T (p.(Pro531Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031154" "0" "50" "1" "1273715" "1273715" "subst" "0" "01804" "TAS1R3_000044" "g.1273715G>A" "" "" "" "DVL1(NM_001330311.2):c.1441C>T (p.(Arg481Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031155" "0" "30" "1" "1273823" "1273823" "subst" "1.23736E-5" "01804" "TAS1R3_000045" "g.1273823G>C" "" "" "" "DVL1(NM_001330311.2):c.1340-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031156" "0" "50" "1" "1275665" "1275665" "subst" "4.06739E-6" "01804" "TAS1R3_000046" "g.1275665G>A" "" "" "" "DVL1(NM_001330311.2):c.731C>T (p.(Thr244Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031157" "0" "50" "1" "1284316" "1284316" "subst" "0" "01804" "DVL1_000039" "g.1284316C>A" "" "" "" "DVL1(NM_001330311.2):c.130G>T (p.(Ala44Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049851" "0" "50" "1" "1267605" "1267605" "subst" "1.9169E-5" "01804" "TAS1R3_000047" "g.1267605G>A" "" "" "" "TAS1R3(NM_152228.3):c.694G>A (p.(Ala232Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049852" "0" "50" "1" "1267644" "1267656" "del" "0" "01804" "TAS1R3_000048" "g.1267644_1267656del" "" "" "" "TAS1R3(NM_152228.3):c.733_745del (p.(Leu245Metfs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049853" "0" "50" "1" "1273609" "1273610" "ins" "0" "01804" "TAS1R3_000049" "g.1273609_1273610insGG" "" "" "" "DVL1(NM_001330311.2):c.1507+39_1507+40insCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049854" "0" "30" "1" "1274771" "1274771" "subst" "4.74982E-5" "01804" "TAS1R3_000050" "g.1274771G>T" "" "" "" "DVL1(NM_001330311.2):c.1103C>A (p.(Ala368Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062922" "0" "50" "1" "1271578" "1271578" "subst" "0" "02325" "TAS1R3_000051" "g.1271578G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062923" "0" "50" "1" "1273763" "1273763" "subst" "1.63271E-5" "02325" "TAS1R3_000052" "g.1273763G>A" "" "" "" "" "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 DVL1 ## Count = 87 "{{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}}" "0000316219" "00006783" "50" "5168" "0" "5168" "0" "c.*3155C>T" "r.(=)" "p.(=)" "" "0000316220" "00006783" "50" "5927" "0" "5927" "0" "c.*3914G>A" "r.(=)" "p.(=)" "" "0000320420" "00006783" "50" "5191" "0" "5191" "0" "c.*3178A>T" "r.(=)" "p.(=)" "" "0000502851" "00006783" "30" "6495" "0" "6495" "0" "c.*4482A>C" "r.(=)" "p.(=)" "" "0000502856" "00006783" "10" "4103" "0" "4103" "0" "c.*2090G>T" "r.(=)" "p.(=)" "" "0000502857" "00006783" "30" "1976" "0" "1976" "0" "c.1976T>C" "r.(?)" "p.(Met659Thr)" "" "0000502858" "00006783" "30" "1682" "0" "1682" "0" "c.1682C>G" "r.(?)" "p.(Pro561Arg)" "" "0000502860" "00006783" "30" "910" "-6" "910" "-6" "c.910-6C>G" "r.(=)" "p.(=)" "" "0000502862" "00006783" "30" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Cys)" "" "0000502864" "00006783" "30" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Ala157Thr)" "" "0000502865" "00006783" "10" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ala156=)" "" "0000604746" "00006783" "30" "1620" "0" "1620" "0" "c.1620C>G" "r.(?)" "p.(Thr540=)" "" "0000604747" "00006783" "30" "1265" "-3" "1265" "-3" "c.1265-3C>T" "r.spl?" "p.?" "" "0000653190" "00006783" "90" "1508" "0" "1508" "0" "c.1508del" "r.(?)" "p.(Pro503Argfs*146)" "" "0000653191" "00006783" "70" "1496" "0" "1508" "0" "c.1496_1508del" "r.(?)" "p.(Pro499Argfs*146)" "" "0000694761" "00006783" "90" "1612" "0" "1616" "0" "c.1612_1616dup" "r.(?)" "p.(Ser539Argfs*112)" "" "0000694762" "00006783" "90" "1612" "0" "1616" "0" "c.1612_1616dup" "r.(?)" "p.(Ser539Argfs*112)" "" "0000694763" "00006783" "90" "1623" "0" "1623" "0" "c.1623del" "r.(?)" "p.(Ser542Valfs*107)" "" "0000694764" "00006783" "90" "1496" "0" "1508" "0" "c.1496_1508del" "r.(?)" "p.(Pro499Argfs*146)" "" "0000694765" "00006783" "90" "1505" "0" "1517" "0" "c.1505_1517del" "r.(?)" "p.(His502Profs*143)" "" "0000694766" "00006783" "90" "1608" "0" "1623" "0" "c.1608_1623del" "r.(?)" "p.(Ser537Valfs*107)" "" "0000694787" "00006783" "90" "1570" "0" "1571" "0" "c.1570_1571delinsC" "r.(?)" "p.(Phe524Profs*125)" "" "0000694788" "00006783" "90" "1505" "0" "1517" "0" "c.1505_1517del" "r.(?)" "p.(His502Profs*143)" "" "0000694789" "00006783" "90" "1519" "0" "1519" "0" "c.1519del" "r.(?)" "p.(Trp507Glyfs*142)" "" "0000694790" "00006783" "90" "1505" "0" "1517" "0" "c.1505_1517del" "r.(?)" "p.(His502Profs*143)" "" "0000694791" "00006783" "90" "1508" "0" "1508" "0" "c.1508del" "r.(?)" "p.(Pro503Argfs*146)" "" "0000694792" "00006783" "90" "1508" "0" "1508" "0" "c.1508del" "r.(?)" "p.(Pro503Argfs*146)" "" "0000694793" "00006783" "90" "1615" "0" "1615" "0" "c.1615del" "r.(?)" "p.(Ser539Alafs*110)" "" "0000694794" "00006783" "90" "1529" "0" "1529" "0" "c.1529del" "r.(?)" "p.(Gly510Valfs*139)" "" "0000694799" "00006783" "90" "1519" "0" "1519" "0" "c.1519del" "r.1519del" "p.Trp507Glyfs*142" "" "0000694800" "00006783" "90" "1562" "0" "1562" "0" "c.1562del" "r.(?)" "p.(Pro521Hisfs*128)" "" "0000694801" "00006783" "90" "1576" "0" "1583" "0" "c.1576_1583delinsG" "r.(?)" "p.(Pro526Alafs*121)" "" "0000694802" "00006783" "90" "1523" "0" "1523" "0" "c.1523del" "r.1523del" "p.Pro508Leufs*141" "" "0000716763" "00006783" "30" "1640" "0" "1640" "0" "c.1640G>C" "r.(?)" "p.(Gly547Ala)" "" "0000798747" "00006783" "30" "1929" "0" "1929" "0" "c.1929C>T" "r.(?)" "p.(Ala643=)" "" "0000798748" "00006783" "50" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Trp)" "" "0000798749" "00006783" "30" "685" "0" "685" "0" "c.685C>G" "r.(?)" "p.(Arg229Gly)" "" "0000798750" "00006783" "30" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Arg164Gly)" "" "0000798751" "00006783" "30" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Cys)" "" "0000798752" "00006783" "30" "362" "8" "362" "8" "c.362+8C>T" "r.(=)" "p.(=)" "" "0000827596" "00006783" "90" "1556" "0" "1556" "0" "c.1556del" "r.1556del" "p.Gly519Aspfs*130" "" "0000844658" "00006783" "90" "1518" "0" "1518" "0" "c.1518del" "r.(?)" "p.(Trp507GlyfsTer142)" "" "0000848276" "00006783" "30" "707" "0" "709" "0" "c.707_709del" "r.(?)" "p.(Ser236del)" "" "0000856936" "00006783" "30" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Thr431Ala)" "" "0000870809" "00006783" "70" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Glu378Ter)" "" "0000870812" "00006783" "50" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Glu378Ter)" "" "0000872442" "00006783" "77" "1620" "0" "1620" "0" "c.1620delC" "r.(?)" "p.(Ser542Valfs*107)" "14" "0000882742" "00006783" "30" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Thr431Ala)" "" "0000882743" "00006783" "50" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Met390Val)" "" "0000882744" "00006783" "30" "910" "-8" "910" "-8" "c.910-8C>T" "r.(=)" "p.(=)" "" "0000910765" "00006783" "30" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(His162Tyr)" "" "0000922934" "00006783" "30" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Ala368Val)" "" "0000922935" "00006783" "30" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ala91Val)" "" "0000927829" "00006783" "77" "1571" "0" "1583" "0" "c.1571_1583del" "r.(?)" "p.(Phe524Serfs*121)" "14" "0000927999" "00006783" "30" "6040" "0" "6040" "0" "c.*4027G>A" "r.(=)" "p.(=)" "" "0000928000" "00006783" "30" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Arg555Gln)" "" "0000946953" "00006783" "30" "5224" "0" "5224" "0" "c.*3211T>A" "r.(=)" "p.(=)" "" "0000946954" "00006783" "30" "-5001" "0" "-5001" "0" "c.-5001G>A" "r.(?)" "p.(=)" "" "0000960423" "00006783" "30" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Pro383Ser)" "" "0000973262" "00006783" "50" "11233" "0" "11233" "0" "c.*9220C>T" "r.(=)" "p.(=)" "" "0000973264" "00006783" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ser139Phe)" "" "0000988638" "00006783" "77" "1575" "0" "1582" "0" "c.1575_1582dup" "r.(?)" "p.(Tyr528Cysfs*124)" "" "0000990202" "00006783" "30" "5996" "0" "5996" "0" "c.*3983C>T" "r.(=)" "p.(=)" "" "0000990203" "00006783" "30" "4514" "0" "4514" "0" "c.*2501G>A" "r.(=)" "p.(=)" "" "0000990204" "00006783" "50" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Gly574Asp)" "" "0000990205" "00006783" "50" "1676" "0" "1676" "0" "c.1676G>A" "r.(?)" "p.(Arg559Gln)" "" "0000990206" "00006783" "50" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456Gln)" "" "0000990207" "00006783" "50" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asn314Ser)" "" "0000990208" "00006783" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Met284Val)" "" "0000990209" "00006783" "30" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Met245Val)" "" "0000990210" "00006783" "30" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Gln209Arg)" "" "0000990211" "00006783" "50" "-4781" "0" "-4781" "0" "c.-4781T>G" "r.(?)" "p.(=)" "" "0000990212" "00006783" "50" "-4848" "0" "-4848" "0" "c.-4848T>A" "r.(?)" "p.(=)" "" "0001031150" "00006783" "50" "4497" "0" "4497" "0" "c.*2484C>T" "r.(=)" "p.(=)" "" "0001031151" "00006783" "30" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Pro646Leu)" "" "0001031152" "00006783" "50" "1893" "0" "1893" "0" "c.1893dup" "r.(?)" "p.(Pro632Alafs*50)" "" "0001031153" "00006783" "30" "1517" "0" "1517" "0" "c.1517C>T" "r.(?)" "p.(Pro506Leu)" "" "0001031154" "00006783" "50" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Arg456Trp)" "" "0001031155" "00006783" "30" "1265" "-7" "1265" "-7" "c.1265-7C>G" "r.(=)" "p.(=)" "" "0001031156" "00006783" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "0001031157" "00006783" "50" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Ala44Ser)" "" "0001049851" "00006783" "50" "5930" "0" "5930" "0" "c.*3917C>T" "r.(=)" "p.(=)" "" "0001049852" "00006783" "50" "5885" "0" "5897" "0" "c.*3872_*3884del" "r.(=)" "p.(=)" "" "0001049853" "00006783" "50" "1432" "39" "1432" "40" "c.1432+39_1432+40insCC" "r.(=)" "p.(=)" "" "0001049854" "00006783" "30" "1103" "0" "1103" "0" "c.1103C>A" "r.(?)" "p.(Ala368Glu)" "" "0001062922" "00006783" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Gln653*)" "" "0001062923" "00006783" "50" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000296501" "0000653190" "0000296502" "0000653191" "0000313035" "0000694761" "0000313036" "0000694762" "0000313037" "0000694763" "0000313038" "0000694764" "0000313039" "0000694765" "0000313040" "0000694766" "0000313057" "0000694787" "0000313058" "0000694788" "0000313059" "0000694789" "0000313060" "0000694790" "0000313061" "0000694791" "0000313062" "0000694792" "0000313063" "0000694793" "0000313064" "0000694794" "0000313066" "0000694799" "0000313067" "0000694800" "0000313068" "0000694801" "0000313069" "0000694802" "0000396034" "0000827596" "0000407848" "0000844658" "0000414734" "0000872442" "0000436707" "0000927829" "0000453870" "0000988638"