### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WAC) # 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}}" "WAC" "WW domain containing adaptor with coiled-coil" "10" "p12.1" "unknown" "NC_000010.10" "UD_136095280402" "" "http://www.LOVD.nl/WAC" "" "1" "17327" "51322" "615049" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/WAC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-27 02:24:37" "00000" "2025-05-05 21:14:00" ## 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}}" "00022704" "WAC" "transcript variant 1" "002" "NM_016628.4" "" "NP_057712.2" "" "" "" "-88" "5450" "1944" "28822421" "28912041" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05603" "DESSH" "Desanto-Shinawi syndrome (DESSH)" "AD" "615049" "" "autosomal dominant" "" "00006" "2019-05-24 19:43:29" "00006" "2021-12-10 21:51:32" "06070" "DESSH" "Desanto-Shinawi syndrome" "AD" "616708" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WAC" "05603" "WAC" "06070" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00054835" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat1" "00054836" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "M" "" "" "" "0" "" "" "" "26757981-Pat2" "00054837" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "M" "" "" "" "0" "" "" "" "26757981-Pat3" "00054838" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "M" "" "" "" "0" "" "" "" "26757981-Pat4" "00054839" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat5" "00054848" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat6" "00054849" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat7" "00054850" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat8" "00054851" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat9" "00054852" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "M" "" "" "" "0" "" "" "" "26757981-Pat10" "00111401" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "no" "" "" "0" "" "" "" "S_097" "00151419" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00183055" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio40" "00289415" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00289427" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00295579" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296852" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00302658" "" "" "" "1" "" "01238" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "FamPat1" "00302659" "" "" "" "1" "" "01238" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "2-generation family, 1 affected, unaffected parents" "F" "" "Italy" "" "0" "" "" "" "FamPat2" "00302660" "" "" "" "1" "" "01238" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "2-generation family, 1 affected, mosaic father" "M" "" "Italy" "" "0" "" "" "" "FamPat3" "00302661" "" "" "" "1" "" "01238" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "carries de novo LoF variant in SETBP1" "M" "" "Italy" "" "0" "" "" "" "" "00302662" "" "" "" "2" "" "00006" "{PMID:DeSanto 2015:26264232}" "2-generation family, 2 affected sisters" "F" "" "" "" "0" "" "" "white" "Pat1" "00302663" "" "" "00302662" "1" "" "00006" "{PMID:DeSanto 2015:26264232}" "" "F" "" "" "" "0" "" "" "white" "Pat2" "00302664" "" "" "" "1" "" "00006" "{PMID:DeSanto 2015:26264232}" "" "F" "" "Italy;Puerto Rico" "" "0" "" "" "" "Pat3" "00302665" "" "" "" "1" "" "00006" "{PMID:DeSanto 2015:26264232}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat4" "00302666" "" "" "" "1" "" "00006" "{PMID:DeSanto 2015:26264232}" "" "F" "" "" "" "0" "" "" "white" "Pat5" "00302667" "" "" "" "1" "" "00006" "{PMID:DeSanto 2015:26264232}" "" "F" "" "France;Hungary;Scotland" "" "0" "" "" "" "Pat6" "00302770" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "F" "" "Canada" "" "0" "" "" "" "762.297" "00303058" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat103" "00307707" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410715" "00309950" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00328437" "" "" "" "1" "" "03361" "" "" "F" "" "France" "" "" "" "" "" "" "00328439" "" "" "" "1" "" "03361" "" "" "F" "" "France" "" "" "" "" "" "" "00411263" "" "" "" "1" "" "01164" "" "" "F" "?" "Turkey" "" "0" "" "" "" "198587" "00416216" "" "" "" "1" "" "01164" "" "" "F" "?" "Turkey" "" "0" "" "" "" "198587" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00054835" "00139" "00054836" "00139" "00054837" "00139" "00054838" "00139" "00054839" "00139" "00054848" "00139" "00054849" "00139" "00054850" "00139" "00054851" "00139" "00054852" "00139" "00111401" "00139" "00151419" "00198" "00183055" "00139" "00289415" "00198" "00289427" "00198" "00295579" "00198" "00296852" "00198" "00302658" "00139" "00302659" "00139" "00302660" "00139" "00302661" "00139" "00302662" "00139" "00302663" "00139" "00302664" "00139" "00302665" "00139" "00302666" "00139" "00302667" "00139" "00302770" "00139" "00303058" "05521" "00307707" "00139" "00309950" "00198" "00328437" "05603" "00328439" "05603" "00411263" "06070" "00416216" "06070" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05521, 05603, 06070 ## Count = 32 "{{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}}" "0000041506" "00139" "00054849" "00719" "Isolated (sporadic)" "06y" "Normal overall IQ (89); adaptive ability 70 (-2SD). Motor delay; autism.; born at 41w following augmentation via pitocin; Apgar scores were normal; Birthweight was normal; no speech delay (-HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041507" "00139" "00054848" "00719" "Isolated (sporadic)" "20y" "Motor delay; Anxiety; Concentration problems; Sleep disturbances; Autism; Oral Hypotonia; Unexplained reduced vision; Strabismus; Brachydactyly; Pedes plano valgi; tapering fingers; Fatigue; paroxymal atonia; Normal MRI; Born after 41+2w wit ventouse extraction after uncomplicated pregnancy; Birth weight -1SD; Apgar 5,8, 10 after 1, 5 and 10 minutes respectively; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041508" "00139" "00054850" "00719" "Isolated (sporadic)" "09y" "Mild ID (IQ 61); Adaptive ability = 69 (-2SD); Severe speech delay; Autism; hyper/hypometropia; Pulmonal abnormality (not further specified); kidney problems (not further specified); Abnormal MRI (not further specified); Vaginal delivary at 38w following Pitocin augmentation; Nuchal cord; Cerebral palsy diagnosed at birth; mild intellectual disability (HP:0001256); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041509" "00139" "00054851" "00719" "Isolated (sporadic)" "12y" "Mild ID (IQ65); speech delay; motor delay; anxiety; sleep disturbances; oral hypotonia; hypotonia; CVI; recurrent respiratory infections; brachydactyly; pedes plano valgi; fetal finger pads; hip dysplasia; simian crease; neonatal feeding difficulties; MRI: mild assymetrical frontotemporal hemisphere.; Born after 39+1w of gestation by ventouse extraction after uncomplicated pregnancy; Normal birth weight;; mild intellectual disability (HP:0001256); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041510" "00139" "00054852" "00719" "Isolated (sporadic)" "10y" "Mild ID (IQ61); Speech delay; motor delay; concentration problems; oral hypotonia; hypotonia; toe walking; normal vision; strabismus; pedes plano valgi; fetal finger pads; inverted nipples; MRI/CT: mild enlarged ventricles; Born at term after uncomplicated pregnancy; birth weight +2.5SD; mild intellectual disability (HP:0001256); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041511" "00139" "00054835" "00719" "Isolated (sporadic)" "22y" "Severe ID; Absence of speech; Motor delay; Sleep disturbances; automutilation; Epilepsy; Toe walking; normal vision; abnormal breathing pattern; neonatal feeding problems; hernia diafragmatica; pubertas tarda; nromal MRI; born after 42w of uncomplicated pregnancy; severe intellectual disability (HP:0010864); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000041512" "00139" "00054836" "00719" "Isolated (sporadic)" "12y06m" "Mild Id (IQ58); speech delay; motor delay; anxiety; sleep disturbances; autism; oral hypotonia; hypotonia; normal vision; abnormal breathing pattern; recurrent respiratory infection; asthma; broad first digit; laryngomalacy; hoarse voice; MRI/CT: normal; born at term after ventouse extraction after uncomplicated pregnancy; Normal birth weigth; mild intellectual disability (HP:0001256)" "" "" "" "" "" "" "" "" "" "" "" "0000041513" "00139" "00054837" "00719" "Isolated (sporadic)" "09y" "mild ID (IQ65); speech delay; motor delay; concentration problems; oral hypotonia; hypotonia; toe walking; unexplained reduced vision; strabismus; recurrent respiratory infections; asthma; brachydactyly fingers; pedes plano valgi; fetal finger pads; sandal gap; simian crease; neonatal feeding difficulties; fever convulsions; fatiguel phimosis; hypertrichosis back; MRI/CT: megacisterna magna; muscle biopsy: low mitochondrial activity; born after 40+5w of gestation with normal birth weight; mild intellectual disability (HP:0001256); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041514" "00139" "00054838" "00719" "Isolated (sporadic)" "00y17m" "ID not formally assessed due to young age; Speech delay; motor delay; sleep disturbances; lack of eye contact at the age of 1 yr; oral hypotonia; hypotonia;recurrent respiratory infections; pedes plano valgi; large frontal fontanel; MRI/CT: normal; born after 37w of uncomplicated pregnancy with normal birth weight; speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000041515" "00139" "00054839" "00719" "Isolated (sporadic)" "03y" "Mild ID; Speech delay; Motor delay; concentration problems; sleep disturbances; oral hypotonia; hypotonia; hypermetropia (+3.75dpt); short hands and feet; low IgG class 2 and 3; MRI/CT: normal; mother used azathioprine, mesalazin and prednison during pregnancy. Delivery at 37+2 via C-section.; mild intellectual disability (HP:0001256); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000087486" "00139" "00111401" "00729" "Isolated (sporadic)" "" "Hypotonia, mild ID, behavioral anomalies, synophrys; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342)" "" "" "" "" "" "" "" "" "" "" "" "0000123811" "00198" "00151419" "01807" "Unknown" "" "HP:0001256 (Intellectual disability, mild)" "" "" "" "" "" "" "" "" "" "" "" "0000143808" "00139" "00183055" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000223027" "00198" "00289415" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Macrocephaly (HP:0000256); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "0000223039" "00198" "00289427" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Macrocephaly (HP:0000256); Telecanthus (HP:0000506); Short stature (HP:0004322); Acne (HP:0001061)" "" "" "" "" "" "" "" "" "" "" "" "0000223144" "00198" "00295579" "01164" "Unknown" "" "Abnormality of the face (HP:0000271); Flat face (HP:0012368); Global developmental delay (HP:0001263); Synophrys (HP:0000664)" "" "" "" "" "" "" "" "" "" "" "" "0000224249" "00198" "00296852" "01164" "Unknown" "" "Delayed speech and language development (HP:0000750); Abnormal facial shape (HP:0001999); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000229739" "00139" "00302658" "01238" "Familial, autosomal recessive" "16y" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229740" "00139" "00302659" "01238" "Familial, autosomal recessive" "7y" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229741" "00139" "00302660" "01238" "Familial, autosomal recessive" "17y" "see paper; ..., encephalopathy related to status epilepticus during slow sleep, mosaic father mildly affected" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229742" "00139" "00302661" "01238" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229743" "00139" "00302662" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DESSH" "intellectual disability" "" "0000229744" "00139" "00302663" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DESSH" "intellectual disability" "" "0000229745" "00139" "00302664" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DESSH" "intellectual disability" "" "0000229746" "00139" "00302665" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DESSH" "intellectual disability" "" "0000229747" "00139" "00302666" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DESSH" "intellectual disability" "" "0000229748" "00139" "00302667" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DESSH" "intellectual disability" "" "0000229852" "00139" "00302770" "00006" "Isolated (sporadic)" "29y" "moderate intellectual disability; speech verbal; walk-24m; no epilepsy; no autistic features; no microcephaly; no macrocephaly; CT brain normal; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230141" "05521" "00303058" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000235267" "00198" "00309950" "01164" "Unknown" "02y" "2y-significant motor developmental delay (HP:0001270), speech 10 words, walking on the hand" "" "" "" "" "" "" "" "" "" "" "" "0000303339" "06070" "00411263" "01164" "Isolated (sporadic)" "18y" "High palate, Brachycephaly, High forehead, Intellectual disability, Laryngomalacia, Abnormal heart morphology, Abnormal ventricular septum morphology" "" "" "" "" "" "" "" "" "" "" "" "0000307981" "06070" "00416216" "01164" "Unknown" "18y" "Abnormal heart morphology, Abnormal ventricular septum morphology, Laryngomalacia, Brachycephaly, High forehead, High palate, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054785" "00054835" "1" "00719" "00719" "2015-11-26 16:45:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000054786" "00054836" "1" "00719" "00719" "2015-11-26 16:55:58" "" "" "arrayCNV" "DNA" "blood" "" "0000054787" "00054837" "1" "00719" "00719" "2015-11-26 17:01:59" "" "" "SEQ-NG" "DNA" "" "" "0000054788" "00054838" "1" "00719" "00719" "2015-11-26 17:04:11" "" "" "SEQ-NG" "DNA" "" "" "0000054789" "00054839" "1" "00719" "00719" "2015-11-26 17:06:16" "" "" "SEQ-NG" "DNA" "" "" "0000054798" "00054848" "1" "00719" "00719" "2015-11-27 08:52:54" "" "" "SEQ-NG" "DNA" "" "" "0000054800" "00054849" "1" "00719" "00719" "2015-11-27 13:42:52" "" "" "SEQ-NG" "DNA" "" "" "0000054801" "00054850" "1" "00719" "00719" "2015-11-27 13:56:22" "" "" "SEQ-NG" "DNA" "" "" "0000054802" "00054851" "1" "00719" "00719" "2015-11-27 14:02:53" "" "" "SEQ-NG" "DNA" "" "" "0000054803" "00054852" "1" "00719" "00719" "2015-11-27 14:08:30" "" "" "SEQ-NG" "DNA" "" "" "0000111866" "00111401" "1" "00729" "00729" "2017-08-03 01:17:13" "" "" "SEQ-NG" "DNA" "" "" "0000152274" "00151419" "0" "01807" "01807" "2018-01-18 12:16:48" "" "" "SEQ" "DNA" "" "" "0000184015" "00183055" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290585" "00289415" "1" "01164" "01164" "2020-03-09 11:33:20" "" "" "SEQ-NG-S" "DNA" "" "" "0000290597" "00289427" "1" "01807" "01807" "2020-03-09 11:34:11" "" "" "SEQ" "DNA" "" "" "0000296749" "00295579" "1" "01164" "01164" "2020-03-18 10:48:54" "" "" "SEQ-NG-S" "DNA" "" "" "0000297962" "00296852" "1" "01164" "01164" "2020-04-14 14:14:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000303781" "00302658" "1" "01238" "00006" "2020-05-27 13:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "74-gene panel ID" "0000303782" "00302659" "1" "01238" "00006" "2020-05-27 13:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "74-gene panel ID" "0000303783" "00302660" "1" "01238" "00006" "2020-05-27 13:42:40" "00006" "2020-05-27 13:50:24" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "74-gene panel ID" "0000303785" "00302661" "1" "01238" "00006" "2020-05-27 13:46:58" "" "" "SEQ;SEQ-NG" "DNA" "" "74-gene panel ID" "0000303787" "00302662" "1" "00006" "00006" "2020-05-27 14:38:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303788" "00302663" "1" "00006" "00006" "2020-05-27 14:38:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303789" "00302664" "1" "00006" "00006" "2020-05-27 14:38:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303790" "00302665" "1" "00006" "00006" "2020-05-27 14:38:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303791" "00302666" "1" "00006" "00006" "2020-05-27 14:38:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303792" "00302667" "1" "00006" "00006" "2020-05-27 14:38:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303896" "00302770" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304183" "00303058" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000308847" "00307707" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000311098" "00309950" "1" "01164" "01164" "2020-09-07 13:53:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000329652" "00328437" "1" "03361" "03361" "2021-01-27 15:12:18" "" "" "SEQ-NG" "DNA" "" "" "0000329653" "00328439" "1" "03361" "03361" "2021-01-27 15:39:02" "" "" "SEQ-NG-IT" "DNA" "" "gene panel 224 ID genes" "0000412528" "00411263" "1" "01164" "01164" "2022-06-09 15:58:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000417495" "00416216" "1" "01164" "01164" "2022-08-25 09:47:30" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000111866" "WAC" "0000303781" "WAC" "0000303782" "WAC" "0000303783" "WAC" "0000303787" "WAC" "0000303788" "WAC" "0000303789" "WAC" "0000303790" "WAC" "0000303791" "WAC" "0000303792" "WAC" "0000303896" "WAC" "0000304183" "WAC" "0000308847" "WAC" "0000412528" "WAC" "0000417495" "WAC" ## 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 = 83 "{{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}}" "0000084797" "0" "90" "10" "28824551" "28824551" "subst" "0" "00719" "WAC_000001" "g.28824551C>T" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "association variant with phenotype not proven" "De novo" "" "" "0" "" "" "g.28535622C>T" "" "pathogenic (dominant)" "" "0000084799" "0" "90" "10" "28842277" "28929097" "" "0" "00719" "WAC_000002" "g.(?_28842277)_(28929097_?)del" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "arr snp 10p11.23p11.23(SNP_A-2108494->SNP_A-1960205)x1 dn; \r\nArray: 250K SNP array" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000084800" "0" "90" "10" "28872382" "28872382" "subst" "0" "00719" "WAC_000003" "g.28872382C>A" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "association variant with phenotype not proven" "De novo" "" "" "0" "" "" "g.28583453C>A" "" "pathogenic (dominant)" "" "0000084801" "0" "70" "10" "28908476" "28908477" "del" "0" "00719" "WAC_000004" "g.28908476_28908477del" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "association variant with phenotype not proven" "De novo" "" "" "0" "" "" "g.28619547_28619548del" "" "likely pathogenic" "" "0000084802" "0" "90" "10" "28872409" "28872409" "dup" "0" "00719" "WAC_000005" "g.28872409dup" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "association variant with phenotype not proven" "De novo" "" "" "0" "" "" "g.28583480dup" "" "pathogenic (dominant)" "" "0000084811" "0" "90" "10" "28905193" "28905193" "subst" "0" "00719" "WAC_000006" "g.28905193C>T" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "" "De novo" "" "" "0" "" "" "g.28616264C>T" "" "pathogenic (dominant)" "" "0000084813" "0" "90" "10" "28879674" "28879675" "del" "0" "00719" "WAC_000007" "g.28879674_28879675del" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "" "De novo" "" "" "0" "" "" "g.28590745_28590746del" "" "pathogenic (dominant)" "" "0000084814" "0" "90" "10" "28899671" "28899674" "del" "0" "00719" "WAC_000008" "g.28899671_28899674del" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "" "De novo" "" "" "0" "" "" "g.28610742_28610745del" "" "pathogenic (dominant)" "" "0000084815" "0" "90" "10" "28900829" "28900829" "del" "0" "00719" "WAC_000009" "g.28900829del" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "" "De novo" "" "" "0" "" "" "g.28611900del" "" "pathogenic (dominant)" "" "0000084816" "0" "90" "10" "28905193" "28905193" "subst" "0" "00719" "WAC_000006" "g.28905193C>T" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "" "De novo" "" "" "0" "" "" "g.28616264C>T" "" "pathogenic (dominant)" "" "0000179024" "0" "90" "10" "28879647" "28879647" "subst" "0" "00729" "WAC_000010" "g.28879647A>G" "" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "" "" "De novo" "yes" "" "0" "" "" "g.28590718A>G" "" "pathogenic (dominant)" "ACMG" "0000321467" "0" "50" "10" "28872409" "28872409" "dup" "0" "01804" "WAC_000005" "g.28872409dup" "" "" "" "WAC(NM_016628.4):c.354_355insA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28583480dup" "" "VUS" "" "0000321468" "0" "30" "10" "28884820" "28884820" "subst" "0.000491486" "01804" "WAC_000015" "g.28884820A>G" "" "" "" "WAC(NM_016628.4):c.769A>G (p.(Thr257Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28595891A>G" "" "likely benign" "" "0000336336" "0" "70" "10" "28824675" "28824675" "dup" "0" "01807" "WAC_000012" "g.28824675dup" "" "" "" "263dupA" "" "Unknown" "" "" "0" "" "" "g.28535746dup" "" "likely pathogenic" "" "0000342954" "0" "70" "10" "28824551" "28824551" "subst" "0" "02327" "WAC_000001" "g.28824551C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28535622C>T" "" "likely pathogenic" "" "0000344839" "0" "70" "10" "28899747" "28899747" "subst" "0" "02327" "WAC_000026" "g.28899747C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28610818C>T" "" "likely pathogenic" "" "0000346434" "0" "30" "10" "28884871" "28884871" "subst" "0" "02327" "WAC_000024" "g.28884871C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28595942C>A" "" "likely benign" "" "0000347873" "0" "50" "10" "28906631" "28906631" "subst" "4.27109E-6" "02327" "WAC_000029" "g.28906631A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28617702A>G" "" "VUS" "" "0000348655" "0" "70" "10" "28872382" "28872382" "subst" "0" "02327" "WAC_000003" "g.28872382C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28583453C>A" "" "likely pathogenic" "" "0000348958" "0" "70" "10" "28897247" "28897247" "subst" "0" "02327" "WAC_000025" "g.28897247C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28608318C>A" "" "likely pathogenic" "" "0000407985" "0" "70" "10" "28824551" "28824551" "subst" "0" "00006" "WAC_000001" "g.28824551C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_016628.3:c.139C>T (Arg47*)" "candidate variant" "De novo" "" "" "0" "" "" "g.28535622C>T" "" "likely pathogenic" "" "0000539820" "0" "50" "10" "28824618" "28824618" "subst" "0.000150253" "01943" "WAC_000030" "g.28824618A>G" "" "" "" "WAC(NM_100264.2):c.71A>G (p.Y24C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28535689A>G" "" "VUS" "" "0000539821" "0" "30" "10" "28872324" "28872324" "dup" "0" "01943" "WAC_000031" "g.28872324dup" "" "" "" "WAC(NM_016628.4):c.275-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28583395dup" "" "likely benign" "" "0000539822" "0" "90" "10" "28872438" "28872441" "del" "0" "02327" "WAC_000032" "g.28872438_28872441del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28583509_28583512del" "" "pathogenic" "" "0000539824" "0" "30" "10" "28897276" "28897276" "subst" "4.06355E-6" "01804" "WAC_000034" "g.28897276A>C" "" "" "" "WAC(NM_016628.4):c.1081A>C (p.(Asn361His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28608347A>C" "" "likely benign" "" "0000539825" "0" "90" "10" "28900772" "28900772" "dup" "0" "02325" "WAC_000035" "g.28900772dup" "" "" "" "WAC(NM_100264.3):c.1223dupC (p.R409Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28611843dup" "" "pathogenic" "" "0000539826" "0" "90" "10" "28903535" "28903538" "del" "0" "02325" "WAC_000027" "g.28903535_28903538del" "" "" "" "WAC(NM_100264.3):c.1342_1345delTCAG (p.S448Pfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28614606_28614609del" "" "pathogenic" "" "0000539829" "0" "90" "10" "28905193" "28905193" "subst" "0" "01804" "WAC_000006" "g.28905193C>T" "" "" "" "WAC(NM_016628.4):c.1648C>T (p.(Arg550*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28616264C>T" "" "pathogenic" "" "0000539830" "0" "90" "10" "28906596" "28906596" "subst" "0" "02329" "WAC_000038" "g.28906596T>G" "" "" "" "WAC(NM_100264.3):c.1622T>G (p.L541*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28617667T>G" "" "pathogenic" "" "0000539832" "0" "50" "10" "28908485" "28908487" "del" "0" "01804" "WAC_000040" "g.28908485_28908487del" "" "" "" "WAC(NM_016628.4):c.1890_1892del (p.(Gln632del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28619556_28619558del" "" "VUS" "" "0000612450" "0" "90" "10" "28879714" "28879715" "ins" "0" "02325" "WAC_000041" "g.28879714_28879715insCC" "" "" "" "WAC(NM_100264.3):c.428_429insCC (p.R143Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28590785_28590786insCC" "" "pathogenic" "" "0000622383" "0" "90" "10" "28906662" "28906662" "dup" "0" "02329" "WAC_000042" "g.28906662dup" "" "" "" "WAC(NM_016628.5):c.1823dupT (p.L608Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28617733dup" "" "pathogenic" "" "0000646994" "11" "90" "10" "28872436" "28872436" "subst" "0" "01238" "WAC_000046" "g.28872436T>C" "1/630 patients" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "" "c.381+2T>C" "germline mosaicism in father" "Germline" "yes" "" "0" "" "" "g.28583507T>C" "" "pathogenic (dominant)" "" "0000646995" "0" "90" "10" "28905206" "28905209" "del" "0" "01238" "WAC_000047" "g.28905206_28905209del" "1/630 patients" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "" "" "" "De novo" "-" "" "0" "" "" "g.28616277_28616280del" "" "pathogenic (dominant)" "" "0000646996" "0" "90" "10" "28872427" "28872427" "subst" "0" "01238" "WAC_000045" "g.28872427C>A" "1/630 patients" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "" "" "" "De novo" "-" "" "0" "" "" "g.28583498C>A" "" "pathogenic (dominant)" "" "0000646997" "21" "50" "10" "28872360" "28872362" "del" "0" "01238" "WAC_000044" "g.28872360_28872362del" "1/630 patients" "{PMID:Leonardi 2020:32214004}, {DOI:Leonardi 2020:10.3390/genes11030344}" "" "" "" "Germline" "no" "" "0" "" "" "g.28583431_28583433del" "" "VUS" "" "0000647270" "0" "70" "10" "28878781" "28878781" "subst" "0" "01164" "WAC_000048" "g.28878781G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28589852G>A" "" "likely pathogenic" "ACMG" "0000647283" "0" "90" "10" "28884902" "28884917" "dup" "0" "01807" "WAC_000049" "g.28884902_28884917dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.28595973_28595988dup" "" "pathogenic" "" "0000653454" "0" "70" "10" "28884807" "28884807" "del" "0" "01164" "WAC_000050" "g.28884807del" "" "" "" "" "ACMG: PVS1,PM2; Global developmental delay, facies with flat midface and synophrys" "Germline" "" "" "0" "" "" "g.28595878del" "" "likely pathogenic" "ACMG" "0000656481" "0" "30" "10" "28824604" "28824604" "subst" "4.06085E-6" "01943" "WAC_000051" "g.28824604T>C" "" "" "" "WAC(NM_100264.2):c.57T>C (p.S19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28535675T>C" "" "likely benign" "" "0000656482" "0" "30" "10" "28899713" "28899713" "subst" "0.000310445" "01943" "WAC_000052" "g.28899713G>A" "" "" "" "WAC(NM_100264.2):c.1116G>A (p.T372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28610784G>A" "" "likely benign" "" "0000660669" "0" "70" "10" "28872345" "28872346" "del" "0" "01164" "WAC_000053" "g.28872345_28872346del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28583416_28583417del" "" "likely pathogenic" "" "0000667182" "0" "90" "10" "28905266" "28905266" "subst" "0" "00006" "WAC_000056" "g.28905266G>A" "" "{PMID:DeSanto 2015:26264232}" "" "" "" "De novo" "" "" "0" "" "" "g.28616337G>A" "" "pathogenic (dominant)" "" "0000667183" "0" "90" "10" "28905266" "28905266" "subst" "0" "00006" "WAC_000056" "g.28905266G>A" "" "{PMID:DeSanto 2015:26264232}" "" "" "" "De novo" "" "" "0" "" "" "g.28616337G>A" "" "pathogenic (dominant)" "" "0000667184" "0" "90" "10" "28824679" "28824680" "dup" "0" "00006" "WAC_000055" "g.28824679_28824680dup" "" "{PMID:DeSanto 2015:26264232}" "" "" "" "De novo" "" "" "0" "" "" "g.28535750_28535751dup" "" "pathogenic (dominant)" "" "0000667185" "0" "90" "10" "28872427" "28872427" "subst" "0" "00006" "WAC_000045" "g.28872427C>A" "" "{PMID:DeSanto 2015:26264232}" "" "" "" "De novo" "" "" "0" "" "" "g.28583498C>A" "" "pathogenic (dominant)" "" "0000667186" "0" "90" "10" "28906691" "28906691" "subst" "0" "00006" "WAC_000043" "g.28906691C>T" "" "{PMID:DeSanto 2015:26264232}" "" "" "" "De novo" "" "" "0" "" "" "g.28617762C>T" "" "pathogenic (dominant)" "" "0000667187" "0" "90" "10" "28824524" "28824524" "del" "0" "00006" "WAC_000054" "g.28824524del" "" "{PMID:DeSanto 2015:26264232}" "" "112delA" "" "De novo" "" "" "0" "" "" "g.28535595del" "" "pathogenic (dominant)" "" "0000667298" "0" "70" "10" "28824675" "28824678" "del" "0" "00006" "WAC_000057" "g.28824675_28824678del" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.28535746_28535749del" "" "pathogenic (dominant)" "" "0000667581" "0" "70" "10" "28872427" "28872427" "subst" "0" "00006" "WAC_000045" "g.28872427C>A" "" "{PMID:Helbig 2016:26795593}" "" "" "has VUS in LPHN1" "De novo" "" "" "0" "" "" "g.28583498C>A" "" "likely pathogenic (dominant)" "ACMG" "0000678841" "0" "30" "10" "28900704" "28900704" "subst" "0" "01943" "WAC_000058" "g.28900704C>G" "" "" "" "WAC(NM_100264.2):c.1155C>G (p.A385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678842" "0" "70" "10" "28903529" "28903530" "dup" "0" "02327" "WAC_000059" "g.28903529_28903530dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683281" "0" "70" "10" "28884799" "28884799" "del" "0" "00006" "WAC_000060" "g.28884799del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.28595870del" "" "likely pathogenic (dominant)" "" "0000686386" "0" "70" "10" "28878753" "28878753" "subst" "0" "01164" "WAC_000061" "g.28878753G>A" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000714005" "0" "90" "10" "28878734" "28878734" "subst" "0" "03361" "WAC_000062" "g.28878734C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "{CV:280400}" "pathogenic" "ACMG" "0000714006" "0" "90" "10" "28824551" "28824551" "subst" "0" "03361" "WAC_000001" "g.28824551C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "{CV:987235}" "pathogenic" "ACMG" "0000722801" "0" "50" "10" "28824556" "28824556" "subst" "8.12183E-6" "02329" "WAC_000011" "g.28824556C>A" "" "" "" "WAC(NM_100264.3):c.9C>A (p.D3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722802" "0" "50" "10" "28884760" "28884760" "subst" "1.21962E-5" "02329" "WAC_000014" "g.28884760G>T" "" "" "" "WAC(NM_100264.3):c.574G>T (p.A192S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722803" "0" "50" "10" "28884845" "28884845" "subst" "0" "02325" "WAC_000063" "g.28884845C>G" "" "" "" "WAC(NM_016628.5):c.794C>G (p.S265C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722804" "0" "90" "10" "28900754" "28900754" "del" "0" "02329" "WAC_000017" "g.28900754del" "" "" "" "WAC(NM_100264.3):c.1205delC (p.P402Qfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722805" "0" "90" "10" "28903595" "28903595" "subst" "0" "02329" "WAC_000020" "g.28903595C>T" "" "" "" "WAC(NM_016628.5):c.1537C>T (p.R513*), WAC(NM_100264.3):c.1402C>T (p.R468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722806" "0" "90" "10" "28906691" "28906691" "subst" "0" "02329" "WAC_000043" "g.28906691C>T" "" "" "" "WAC(NM_100264.3):c.1717C>T (p.Q573*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804409" "0" "30" "10" "28872324" "28872324" "subst" "0" "02325" "WAC_000064" "g.28872324T>G" "" "" "" "WAC(NM_016628.5):c.275-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804410" "0" "90" "10" "28878765" "28878766" "del" "0" "02329" "WAC_000065" "g.28878765_28878766del" "" "" "" "WAC(NM_016628.5):c.482_483delAA (p.K161Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852478" "0" "90" "10" "28897202" "28897202" "del" "0" "02329" "WAC_000066" "g.28897202del" "" "" "" "WAC(NM_016628.5):c.1007delC (p.P336Lfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861900" "0" "90" "10" "28903595" "28903595" "subst" "0" "02325" "WAC_000020" "g.28903595C>T" "" "" "" "WAC(NM_016628.5):c.1537C>T (p.R513*), WAC(NM_100264.3):c.1402C>T (p.R468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000869875" "0" "70" "10" "28824684" "28824684" "del" "0" "01164" "WAC_000067" "g.28824684del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "0" "" "" "g.28535755del" "" "likely pathogenic (dominant)" "ACMG" "0000877180" "0" "70" "10" "28824684" "28824684" "del" "0" "01164" "WAC_000067" "g.28824684del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.28535755del" "" "likely pathogenic (dominant)" "ACMG" "0000889121" "0" "90" "10" "28900760" "28900760" "subst" "0" "02329" "WAC_000068" "g.28900760C>G" "" "" "" "WAC(NM_016628.5):c.1346C>G (p.S449*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925145" "0" "90" "10" "28884965" "28884968" "del" "0" "02329" "WAC_000069" "g.28884965_28884968del" "" "" "" "WAC(NM_016628.5):c.914_917delGAAA (p.R305Kfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929675" "0" "90" "10" "28878684" "28878688" "del" "0" "02325" "WAC_000070" "g.28878684_28878688del" "" "" "" "WAC(NM_016628.5):c.401_405delACTGG (p.D134Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998259" "0" "30" "10" "28822924" "28822924" "subst" "0" "01804" "WAC_000071" "g.28822924C>A" "" "" "" "WAC(NM_016628.4):c.42-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998260" "0" "30" "10" "28824552" "28824552" "subst" "4.46708E-5" "01804" "WAC_000072" "g.28824552G>A" "" "" "" "WAC(NM_016628.4):c.140G>A (p.(Arg47Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998261" "0" "30" "10" "28824561" "28824561" "subst" "0" "01804" "WAC_000073" "g.28824561G>C" "" "" "" "WAC(NM_016628.4):c.149G>C (p.(Gly50Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998262" "0" "30" "10" "28879666" "28879666" "subst" "1.69256E-5" "01804" "WAC_000074" "g.28879666A>C" "" "" "" "WAC(NM_016628.4):c.515A>C (p.(Glu172Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998263" "0" "30" "10" "28879690" "28879690" "subst" "1.23259E-5" "01804" "WAC_000075" "g.28879690G>A" "" "" "" "WAC(NM_016628.4):c.539G>A (p.(Ser180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998264" "0" "30" "10" "28884772" "28884772" "subst" "2.84643E-5" "02325" "WAC_000076" "g.28884772A>G" "" "" "" "WAC(NM_016628.5):c.721A>G (p.S241G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998265" "0" "30" "10" "28897124" "28897124" "subst" "0" "01804" "WAC_000077" "g.28897124C>T" "" "" "" "WAC(NM_016628.4):c.929C>T (p.(Ser310Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025737" "0" "30" "10" "28884658" "28884658" "subst" "1.65142E-5" "02325" "WAC_000078" "g.28884658A>T" "" "" "" "WAC(NM_016628.5):c.611-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030863" "0" "50" "10" "28872430" "28872430" "subst" "0" "03779" "WAC_000079" "g.28872430A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001037877" "0" "30" "10" "28824265" "28824265" "subst" "0" "01804" "WAC_000080" "g.28824265T>G" "" "" "" "WAC(NM_016628.5):c.79-226T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037878" "0" "30" "10" "28849254" "28849254" "subst" "0" "01804" "WAC_000081" "g.28849254T>C" "" "" "" "WAC(NM_016628.5):c.275-23074T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037879" "0" "50" "10" "28899693" "28899695" "del" "0" "01804" "WAC_000082" "g.28899693_28899695del" "" "" "" "WAC(NM_016628.5):c.1231_1233del (p.(Pro411del))" "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 WAC ## Count = 83 "{{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}}" "0000084797" "00022704" "90" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "1" "0000084799" "00022704" "90" "382" "-1" "1944" "1" "c.382-?_1944+?del" "r.?" "p.?" "_5_14" "0000084800" "00022704" "90" "329" "0" "329" "0" "c.329C>A" "r.(?)" "p.(Ser110*)" "4" "0000084801" "00022704" "70" "1885" "0" "1886" "0" "c.1885_1886del" "r.(?)" "p.(Leu629Glufs*5)" "13" "0000084802" "00022704" "90" "356" "0" "356" "0" "c.356dup" "r.(?)" "p.(Asn119Lysfs*2)" "8" "0000084811" "00022704" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550*)" "" "0000084813" "00022704" "90" "523" "0" "524" "0" "c.523_524del" "r.(?)" "p.(Lys175Aspfs*10)" "" "0000084814" "00022704" "90" "1209" "0" "1212" "0" "c.1209_1212del" "r.(?)" "p.(His404Serfs*12)" "" "0000084815" "00022704" "90" "1415" "0" "1415" "0" "c.1415del" "r.(?)" "p.(Pro472Leufs*13)" "" "0000084816" "00022704" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550*)" "" "0000179024" "00022704" "90" "498" "-2" "498" "-2" "c.498-2A>G" "r.spl" "p.?" "" "0000321467" "00022704" "50" "356" "0" "356" "0" "c.356dup" "r.(?)" "p.(Asn119LysfsTer2)" "" "0000321468" "00022704" "30" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Thr257Ala)" "" "0000336336" "00022704" "70" "263" "0" "263" "0" "c.263dup" "r.(?)" "p.(Arg89Glufs*21)" "" "0000342954" "00022704" "70" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Ter)" "" "0000344839" "00022704" "70" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Gln429Ter)" "" "0000346434" "00022704" "30" "820" "0" "820" "0" "c.820C>A" "r.(?)" "p.(His274Asn)" "" "0000347873" "00022704" "50" "1792" "0" "1792" "0" "c.1792A>G" "r.(?)" "p.(Met598Val)" "" "0000348655" "00022704" "70" "329" "0" "329" "0" "c.329C>A" "r.(?)" "p.(Ser110Ter)" "" "0000348958" "00022704" "70" "1052" "0" "1052" "0" "c.1052C>A" "r.(?)" "p.(Ser351Ter)" "" "0000407985" "00022704" "00" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "" "0000539820" "00022704" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Tyr69Cys)" "" "0000539821" "00022704" "30" "275" "-4" "275" "-4" "c.275-4dup" "r.spl?" "p.?" "" "0000539822" "00022704" "90" "381" "4" "381" "7" "c.381+4_381+7del" "r.spl?" "p.?" "" "0000539824" "00022704" "30" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Asn361His)" "" "0000539825" "00022704" "90" "1358" "0" "1358" "0" "c.1358dup" "r.(?)" "p.(Arg454LysfsTer8)" "" "0000539826" "00022704" "90" "1477" "0" "1480" "0" "c.1477_1480del" "r.(?)" "p.(Ser493ProfsTer6)" "" "0000539829" "00022704" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Ter)" "" "0000539830" "00022704" "90" "1757" "0" "1757" "0" "c.1757T>G" "r.(?)" "p.(Leu586Ter)" "" "0000539832" "00022704" "50" "1894" "0" "1896" "0" "c.1894_1896del" "r.(?)" "p.(Gln632del)" "" "0000612450" "00022704" "90" "563" "0" "564" "0" "c.563_564insCC" "r.(?)" "p.(Arg188SerfsTer5)" "" "0000622383" "00022704" "90" "1823" "0" "1823" "0" "c.1823dup" "r.(?)" "p.(Leu608PhefsTer9)" "" "0000646994" "00022704" "90" "381" "2" "381" "2" "c.381+2T>C" "r.275_381del" "p.Gly92Alafs*3" "4i" "0000646995" "00022704" "90" "1661" "0" "1664" "0" "c.1661_1664del" "r.(?)" "p.(Ser554*)" "12" "0000646996" "00022704" "90" "374" "0" "374" "0" "c.374C>A" "r.(?)" "p.(Ser125*)" "4" "0000646997" "00022704" "50" "307" "0" "309" "0" "c.307_309del" "r.(?)" "p.(Asn103del)" "4" "0000647270" "00022704" "70" "497" "1" "497" "1" "c.497+1G>A" "r.(?)" "p.(?)" "" "0000647283" "00022704" "90" "851" "0" "866" "0" "c.851_866dup" "r.(?)" "p.(Lys290SerfsTer80)" "" "0000653454" "00022704" "70" "756" "0" "756" "0" "c.756del" "r.(?)" "p.(Val253Trpfs*78)" "" "0000656481" "00022704" "30" "192" "0" "192" "0" "c.192T>C" "r.(?)" "p.(Ser64=)" "" "0000656482" "00022704" "30" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(Thr417=)" "" "0000660669" "00022704" "70" "292" "0" "293" "0" "c.292_293del" "r.(?)" "p.(Gln98ArgfsTer11)" "" "0000667182" "00022704" "90" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Trp574*)" "" "0000667183" "00022704" "90" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Trp574*)" "" "0000667184" "00022704" "90" "267" "0" "268" "0" "c.267_268dup" "r.(?)" "p.(Asp90Glyfs*103)" "" "0000667185" "00022704" "90" "374" "0" "374" "0" "c.374C>A" "r.(?)" "p.(Ser125*)" "" "0000667186" "00022704" "90" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Gln618*)" "" "0000667187" "00022704" "90" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Ser38Alafs*154)" "" "0000667298" "00022704" "70" "263" "0" "266" "0" "c.263_266del" "r.(?)" "p.(Glu88Glyfs*103)" "" "0000667581" "00022704" "70" "374" "0" "374" "0" "c.374C>A" "r.(?)" "p.(Ser125*)" "" "0000678841" "00022704" "30" "1290" "0" "1290" "0" "c.1290C>G" "r.(?)" "p.(Ala430=)" "" "0000678842" "00022704" "70" "1471" "0" "1472" "0" "c.1471_1472dup" "r.(?)" "p.(Gln492HisfsTer9)" "" "0000683281" "00022704" "70" "748" "0" "748" "0" "c.748del" "r.(?)" "p.(Ile250Serfs*81)" "" "0000686386" "00022704" "70" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157*)" "" "0000714005" "00022704" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151*)" "5" "0000714006" "00022704" "90" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "3" "0000722801" "00022704" "50" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Asp48Glu)" "" "0000722802" "00022704" "50" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Ala237Ser)" "" "0000722803" "00022704" "50" "794" "0" "794" "0" "c.794C>G" "r.(?)" "p.(Ser265Cys)" "" "0000722804" "00022704" "90" "1340" "0" "1340" "0" "c.1340del" "r.(?)" "p.(Pro447GlnfsTer9)" "" "0000722805" "00022704" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513Ter)" "" "0000722806" "00022704" "90" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Gln618Ter)" "" "0000804409" "00022704" "30" "275" "-4" "275" "-4" "c.275-4T>G" "r.spl?" "p.?" "" "0000804410" "00022704" "90" "482" "0" "483" "0" "c.482_483del" "r.(?)" "p.(Lys161Argfs*4)" "" "0000852478" "00022704" "90" "1007" "0" "1007" "0" "c.1007del" "r.(?)" "p.(Pro336Leufs*51)" "" "0000861900" "00022704" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513Ter)" "" "0000869875" "00022704" "70" "272" "0" "272" "0" "c.272del" "r.(?)" "p.(Gly91Valfs*101)" "" "0000877180" "00022704" "70" "272" "0" "272" "0" "c.272del" "r.(?)" "p.(Gly91Valfs*101)" "" "0000889121" "00022704" "90" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.(Ser449*)" "" "0000925145" "00022704" "90" "914" "0" "917" "0" "c.914_917del" "r.(?)" "p.(Arg305Lysfs*25)" "" "0000929675" "00022704" "90" "401" "0" "405" "0" "c.401_405del" "r.(?)" "p.(Asp134Valfs*2)" "" "0000998259" "00022704" "30" "42" "-3" "42" "-3" "c.42-3C>A" "r.spl?" "p.?" "" "0000998260" "00022704" "30" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0000998261" "00022704" "30" "149" "0" "149" "0" "c.149G>C" "r.(?)" "p.(Gly50Ala)" "" "0000998262" "00022704" "30" "515" "0" "515" "0" "c.515A>C" "r.(?)" "p.(Glu172Ala)" "" "0000998263" "00022704" "30" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Ser180Asn)" "" "0000998264" "00022704" "30" "721" "0" "721" "0" "c.721A>G" "r.(?)" "p.(Ser241Gly)" "" "0000998265" "00022704" "30" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Ser310Leu)" "" "0001025737" "00022704" "30" "611" "-4" "611" "-4" "c.611-4A>T" "r.spl?" "p.?" "" "0001030863" "00022704" "50" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Asp126Ala)" "" "0001037877" "00022704" "30" "79" "-226" "79" "-226" "c.79-226T>G" "r.(=)" "p.(=)" "" "0001037878" "00022704" "30" "275" "-23074" "275" "-23074" "c.275-23074T>C" "r.(=)" "p.(=)" "" "0001037879" "00022704" "50" "1231" "0" "1233" "0" "c.1231_1233del" "r.(?)" "p.(Pro411del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000054785" "0000084797" "0000054786" "0000084799" "0000054787" "0000084800" "0000054788" "0000084801" "0000054789" "0000084802" "0000054798" "0000084811" "0000054800" "0000084813" "0000054801" "0000084814" "0000054802" "0000084815" "0000054803" "0000084816" "0000111866" "0000179024" "0000152274" "0000336336" "0000184015" "0000407985" "0000290585" "0000647270" "0000290597" "0000647283" "0000296749" "0000653454" "0000297962" "0000660669" "0000303781" "0000646995" "0000303782" "0000646996" "0000303783" "0000646994" "0000303785" "0000646997" "0000303787" "0000667182" "0000303788" "0000667183" "0000303789" "0000667184" "0000303790" "0000667185" "0000303791" "0000667186" "0000303792" "0000667187" "0000303896" "0000667298" "0000304183" "0000667581" "0000308847" "0000683281" "0000311098" "0000686386" "0000329652" "0000714005" "0000329653" "0000714006" "0000412528" "0000869875" "0000417495" "0000877180"