### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = YY1) # 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}}" "YY1" "YY1 transcription factor" "14" "q" "unknown" "NG_046908.1" "UD_136095354740" "" "https://www.LOVD.nl/YY1" "" "1" "12856" "7528" "600013" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/YY1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-11 17:06:22" "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}}" "00025587" "YY1" "YY1 transcription factor" "001" "NM_003403.4" "" "NP_003394.1" "" "" "" "-480" "2679" "1245" "100705102" "100745371" "00006" "2020-12-11 17:06:51" "" "" ## 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}}" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06235" "GADEVS" "Gabriele-de Vries syndrome" "AD" "617557" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "YY1" "06235" ## Individuals ## Do not remove or alter this header ## ## Count = 47 "{{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}}" "00144449" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00324411" "" "" "" "1" "" "00006" "{PMID:Vissers 2010:21076407}, {PMID:Gabriele 2017:28575647}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "(Netherlands)" "" "0" "" "" "" "MRtrio3;Pat1" "00443818" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat659" "00457752" "" "" "" "1" "" "01164" "" "" "M" "no" "Turkey" "" "0" "" "" "" "310897" "00457780" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00457781" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "F" "" "Japan" "" "0" "" "" "" "Pat3" "00457782" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "F" "" "Switzerland" "" "0" "" "" "" "Pat4" "00457783" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "F" "" "Norway" "" "0" "" "" "" "Pat5" "00457784" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "M" "" "United States" "" "0" "" "" "" "Pat6" "00457785" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "M" "" "United States" "" "0" "" "" "" "Pat7" "00457786" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "F" "" "United States" "" "0" "" "" "" "Pat8" "00457787" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "M" "" "United States" "" "0" "" "" "" "Pat9" "00457788" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "F" "" "United States" "" "0" "" "" "" "Pat10" "00457790" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "Netherlands" "" "0" "" "" "" "RUMC1" "00457791" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER266323" "00457792" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER249213" "00457793" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER254518" "00457794" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "" "" "0" "" "" "" "SA1" "00457795" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER250486" "00457796" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "" "" "0" "" "" "" "SA2" "00457797" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER263205" "00457798" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER263711" "00457799" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER256842" "00457800" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER267668" "00457801" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER272547" "00457802" "" "" "" "1" "" "00006" "{PMID:Gabriele 2017:28575647}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER271459" "00457806" "" "" "" "1" "" "00006" "{PMID:Dos Santos 2022:35829845}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Brazil" "" "0" "" "" "African" "patient" "00457808" "" "" "" "1" "" "00006" "{PMID:Yang 2024:37658636}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00457809" "" "" "" "1" "" "00006" "{PMID:Morales-Rosado 2018:30549423}" "" "F" "" "United States" "" "0" "" "" "" "patient" "00457810" "" "" "" "1" "" "00006" "{PMID:Tan 2020:33369188}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00457811" "" "" "" "1" "" "00006" "{PMID:Koruga 2021:37189872}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "patient" "00457812" "" "" "" "1" "" "00006" "{PMID:Carminho-Rodrigues 2020:32627382}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Switzerland" "" "0" "" "" "" "patient" "00457813" "" "" "" "1" "" "00006" "{PMID:Balakrishnan 2021:34456245}" "" "F" "" "India" "" "0" "" "" "Asia" "patient" "00457814" "" "" "" "1" "" "00006" "{PMID:Khamirani 2022:34729769}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "FamPatV2" "00457815" "" "" "" "1" "" "00006" "{PMID:Zorzi 2021:33638881}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00457816" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "F" "" "" "" "0" "" "" "" "YY1-1" "00457817" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "F" "" "" "" "0" "" "" "" "YY1-2" "00457818" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-3" "00457819" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "F" "" "" "" "0" "" "" "" "YY1-4" "00457820" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "F" "" "" "" "0" "" "" "" "YY1-5" "00457821" "" "" "" "2" "" "00006" "{PMID: Cherik 2022:35027293}" "family, 1 affected and carrier father (intellectual disability)" "M" "" "" "" "0" "" "" "" "YY1-7" "00457822" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-8" "00457823" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-9" "00457824" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-10" "00457825" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-11" "00457826" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-12" "00457827" "" "" "" "1" "" "00006" "{PMID: Cherik 2022:35027293}" "" "M" "" "" "" "0" "" "" "" "YY1-13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 47 "{{individualid}}" "{{diseaseid}}" "00144449" "00198" "00324411" "00139" "00443818" "00198" "00457752" "06235" "00457780" "05611" "00457781" "05611" "00457782" "05611" "00457783" "05611" "00457784" "05611" "00457785" "05611" "00457786" "05611" "00457787" "05611" "00457788" "05611" "00457790" "05611" "00457791" "05611" "00457792" "05611" "00457793" "05611" "00457794" "05611" "00457795" "05611" "00457796" "05611" "00457797" "05611" "00457798" "05611" "00457799" "05611" "00457800" "05611" "00457801" "05611" "00457802" "05611" "00457806" "05611" "00457808" "05611" "00457809" "05611" "00457810" "05611" "00457811" "05611" "00457812" "00198" "00457813" "05611" "00457814" "05611" "00457815" "05611" "00457816" "05611" "00457817" "05611" "00457818" "05611" "00457819" "05611" "00457820" "05611" "00457821" "05611" "00457822" "05611" "00457823" "05611" "00457824" "05611" "00457825" "05611" "00457826" "05611" "00457827" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06235 ## Count = 47 "{{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}}" "0000117216" "00198" "00144449" "01807" "Unknown" "" "Dystonia (HP:0001332); Ataxia (HP:0001251); Intellectual disability, mild (HP:0001256)" "" "" "" "" "" "" "" "" "" "" "" "0000242953" "00139" "00324411" "00006" "Isolated (sporadic)" "04y05m" "see paper; ..., birth weight 2,010g (SD-2.5), height 84cm (SD-3), OFC 48.5cm (SD-1); 1y-sit, 2y9m-walking; first words at 2 years; moderate intellectual disability; no hypotonia; anxiety; no sleep disturbance; no abnormal movement; facial asymmetry; broad forehead; simple posteriorly rotated ears; mild periorbital fullness; no downslant; full nasal tip; malar flattening; indented upper lip; thick lower lip; pointed chin; telecanthus; no anomalies extremities; feeding problems; no recurrent infections; no eye abnormalities; hydronephrosis; no cardiac abnormalities; lacrimal duct stenosis" "" "02y09m" "" "" "" "" "" "" "GADEVS" "intellectual disability" "" "0000333095" "00198" "00443818" "00006" "Isolated (sporadic)" "" "cardiac malformation, diaphragmatic hernia, absent gall bladder, vertebral and costal abnormalities, incomplete ossification of the sternum, dysmorphic features" "" "" "" "" "" "" "" "" "GADEVS" "pentalogy of Cantrell" "" "0000346201" "06235" "00457752" "01164" "Isolated (sporadic)" "01y" "Global developmental delay, Proptosis, Downslanted palpebral fissures, Macrocephaly, Neonatal respiratory distress, Single transverse palmar crease, Cafe-au-lait spot, Hemangioma, Dilation of Virchow-Robin spaces, Ventriculomegaly, Hydrocephalus, Prominent forehead, Thin upper lip vermilion" "" "" "" "" "" "" "" "" "" "" "" "0000346229" "05611" "00457780" "00006" "Isolated (sporadic)" "15y10m" "birth weight 2,220g (SD-3), height 170cm (SD-1), OFC 57cm (SD+0.4); 2y-walking; first words at 2 years; moderate intellectual disability; no hypotonia; autism spectrum disorder; no sleep disturbance; toe walking; MRI brain normal; facial asymmetry; broad forehead; simple posteriorly rotated ears; periorbital fullness; downslant; full nasal tip; malar flattening; indented upper lip; thick lower lip; pointed chin; patella luxations, finger joint laxity; feeding problems; recurrent infections; strabismus; hydronephrosis, ureteropelvic junction stenosis; no cardiac abnormalities; extensible skin, teeth abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346230" "05611" "00457781" "00006" "Isolated (sporadic)" "5y1m" "birth weight 2,290g (SD-1.6), height 105.2cm (SD-0.5), OFC 50.5cm (SD+0.6); 1y-sit, 4y8m-walk; mild delay; mild intellectual disability; no hypotonia; MRI brain normal; facial asymmetry; broad forehead; simple posteriorly rotated ears; periorbital fullness; downslant; full nasal tip; malar flattening; indented upper lip; mild thick lower lip; pointed chin; long fingers; feeding problems (until 2y5m-G-tube); no recurrent infections; no eye abnormalities; neuroblastoma" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346231" "05611" "00457782" "00006" "Isolated (sporadic)" "39y" "birth height 153.5cm (SD-1.5), OFC 54cm (SD-1.5); mild delay motor development; mild delay; mild intellectual disability; hypotonia; schizoaffective disorder; sleep disturbance; tremor; MRI brain frontal gliosis, enlarged subarachnoid spaces; facial asymmetry; broad forehead; simple posteriorly rotated ears; periorbital fullness; downslant; full nasal tip; malar flattening; indented upper lip; thick lower lip; no pointed chin; epiblepharon, high palate; finger joint laxity, Sydney line, sandal gap; no feeding problems; no recurrent infections; strabismus; no renal abnormalities; no cardiac abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346232" "05611" "00457783" "00006" "Isolated (sporadic)" "17y6m" "birth weight 2,600g (SD-2), height 159cm (SD+0.7), OFC 56cm (SD+0.7); 15m-walk; first words at 2 years; mild intellectual disability, learning difficulties; no hypotonia; attention deficit hyperactivity disorder; sleep disturbance; progressive dystonia; MRI brain normal; no facial asymmetry; broad forehead; simple posteriorly rotated ears; periorbital fullness; no downslant; full nasal tip; no malar flattening; no indented upper lip; thick lower lip; no pointed chin; hemihypotrophy distal left leg; feeding problems; no recurrent infections; hypermetropia; no renal abnormalities; no cardiac abnormalities; esophageal atresia, febrile seizures, hypothyroidism, unilateral breast hypoplasia" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346233" "05611" "00457784" "00006" "Isolated (sporadic)" "7y10m" "birth weight 2,050g (SD-1.3), height 124cm (SD0), OFC 52.5cm (SD0); 3y-walk; delay, 2–3 word phrases; mild-moderate intellectual disability; no hypotonia; no behavioral abnormality; no sleep disturbance; waddling gait; MRI brain delayed myelination, cortical dysplasia, diffuse white-matter loss; no facial asymmetry; broad forehead; simple posteriorly rotated ears; no periorbital fullness; downslant; no full nasal tip; malar flattening; no indented upper lip; thick lower lip; pointed chin; Pierre-Robin sequence with cleft-palate; laterally deviated halluces; feeding problems (G-tube); no recurrent infections; no eye abnormalities; no renal abnormalities; Ebstein anomaly" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346234" "05611" "00457785" "00006" "Isolated (sporadic)" "1y3m" "birth weight 2,409g (SD-1.8), height 77.2cm (SD-0.8), OFC 47.3cm (SD0); 1y-sit; first words at 13 months; mild intellectual disability (DQ 68); hypotonia; no behavioral abnormality; no sleep disturbance; no abnormal movement; MRI brain minimal prominence right lateral ventricle; mild facial asymmetry; broad forehead; low-set ears; no periorbital fullness; no downslant; full nasal tip; no malar flattening; indented upper lip; no thick lower lip; no pointed chin; no anomalies extremities; feeding problems (G-tube); no recurrent infections; strabismus; no renal abnormalities; patent foramen ovale, small aorto-pulmonary collateral; bilateral cryptorchidism" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346235" "05611" "00457786" "00006" "Isolated (sporadic)" "35y" "birth weight 2,010g (SD−2.5), height 154.4cm (SD-2.5), OFC 52.5cm (SD-2); 15m-wal; delay; special education; no hypotonia; no behavioral abnormality; no sleep disturbance; progressive dystonia; MRI brain subcortical bifrontal white-matter foci; mild facial asymmetry; broad forehead; simple ears; no periorbital fullness; no downslant; no full nasal tip; malar flattening; no indented upper lip; no thick lower lip; no pointed chin; difficulty with chewing and swallowing; no recurrent infections; no eye abnormalities; no renal abnormalities; hypothyroidism" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346236" "05611" "00457787" "00006" "Isolated (sporadic)" "9y3m" "birth weight 3.83kg, height 125.5cm (SD-1.5), OFC 50 cmcm (SD-1.3); 6y6m-wal; non-verbal; moderate-severe intellectual disability; moderate hypotonia; autism; no sleep disturbance; no abnormal movement; MRI brainfocal areas of encephalomalacia; facial asymmetry; broad forehead; suborbital fullness; downslant; full nasal tip; malar flattening; no indented upper lip; thick lower lip; no pointed chin; micrognathia, ptosis, sparse eyebrows; distal arthrogryposis; consistently underweight; no recurrent infections; mild astigmatism; no cardiac abnormalities; craniosynostosis, growth hormone deficiency, lacrimal duct hypoplasia, tooth abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346237" "05611" "00457788" "00006" "Isolated (sporadic)" "1y5m" "birth weight 3,062g, height 79.2cm (SD-0.8), OFC 44.8cm (SD-1.8); 5m-sit, 22m-walk; first words 14 months; no hypotonia; no behavioral abnormality; no sleep disturbance; no abnormal movement; MRI brain normal; no facial asymmetry; broad forehead; protruding ears; periorbital fullness; no downslant; full nasal tip; malar flattening; no indented upper lip; thick lower lip; no pointed chin; dolichocephaly, hypotonic facies, frontal upsweep; no anomalies extremities; feeding problems; no recurrent infections; strabismus; no cardiac abnormalities; hip clicking" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346239" "05611" "00457790" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, hypotonia, feeding problems, hearing loss, dysmorphisms, recurrent infections" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346240" "05611" "00457791" "00006" "Unknown" "" "intellectual disability, intrauterine growth retardation, microcephaly, hypotonia, feeding problems, malrotation, micropenis, hypoplastic scrotum, craniosynostosis, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346241" "05611" "00457792" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, patent ductus arteriosus, cryptorchidism, tethered cord, small chest, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346242" "05611" "00457793" "00006" "Isolated (sporadic)" "" "intellectual disability, small for gestational age, short stature, hypotonia, spasticity, micropenis, craniosynostosis, feeding problems, strabism, nystagmus, dysmorphisms, recurrent infections" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346243" "05611" "00457794" "00006" "Isolated (sporadic)" "" "moderate intellectual disability, atrial septal defect, craniosynostosis, cleft palate, ureteral duplication, vesicoureteric reflux, feeding problems, gastro-oesophageal reflux, hypermetropia, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346244" "05611" "00457795" "00006" "Isolated (sporadic)" "" "severe intellectual disability, intrauterine growth retardation, hypotonia, microcephaly, hypospadia, cryptorchidism, mild ventriculomegaly, feeding problems, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346245" "05611" "00457796" "00006" "Isolated (sporadic)" "" "moderate intellectual disability, hypotonia, corpus callosum hypoplasia, craniosynostosis, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346246" "05611" "00457797" "00006" "Isolated (sporadic)" "" "fetal hygroma colli, partial esophageal atresia, club feet, tricuspid insufficiency, right ventricle thickness, termination of pregnancy" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346247" "05611" "00457798" "00006" "Isolated (sporadic)" "" "intellectual disability, intrauterine growth retardation, hypotonia, atrial and ventricular septal defect, hypoplastic aortic arch, duplex kidney, feeding problems, dysmorphisms, recurrent infections" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346248" "05611" "00457799" "00006" "Isolated (sporadic)" "" "mild intellectual disability, small for gestational age, short stature, hypotonia, hyperactivity, feeding problems, hypermetropia, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346249" "05611" "00457800" "00006" "Isolated (sporadic)" "" "corpus callosum agenesis, enlarged kidneys, single umbilical artery, termination of pregnancy" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346250" "05611" "00457801" "00006" "Isolated (sporadic)" "" "mild developmental delay, very active, poor concentration, strabism, feeding problems, long slim hands and feet, deviated toes, constipation, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346251" "05611" "00457802" "00006" "Isolated (sporadic)" "" "moderate intellectual disability, small for gestational age, strabism, enlarged lateral ventricle, white matter changes, feeding problems, long halluces, dysmorphisms" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346255" "05611" "00457806" "00006" "Isolated (sporadic)" "22y" "see paper; ..., 10y-syndromic moderate-severe intellectual disability; gestational intrauterine growth restriction, hypoactivity; 3m-failure to thrive, recurrent bilious vomiting; 1y-bilateral hearing loss; early infancy febrile seizures;severe scoliosis, chorioretinitis" "" "" "intellectual disability" "" "" "" "" "" "" "intellectual disability" "" "0000346257" "05611" "00457808" "00006" "Isolated (sporadic)" "01y10m" "see paper; ..., birth weight not ≤2SD; motor delay; delayed speech/ language development; no intellectual disability; no behavioral abnormality; normal movement; MRI brain abnormal; musculature hypotonia; broad forehead; no facial asymmetry; no broad nasal tip; no thick lower lip vermilion; no pointed chin; no ear abnormality; no cardiac abnormalities; no feeding difficulties; no recurrent infections; eye abnormalities; skeletal abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "developmental delay" "" "0000346258" "05611" "00457809" "00006" "Isolated (sporadic)" "25y" "see paper; ..., motor delay; delayed speech/ language development; intellectual disability; behavioral abnormality; normal movement; MRI brain abnormal; no musculature hypotonia; broad forehead; no facial asymmetry; broad nasal tip; thick lower lip vermilion; no pointed chin; ear abnormality; cardiac abnormalities; feeding difficulties; skeletal abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "autoimmune myasthenia gravis, learning disability, facial dysmorphisms, delayed motor development" "" "0000346259" "05611" "00457810" "00006" "Isolated (sporadic)" "00y09m" "see paper; ..., birth weight not ≤2SD; motor delay; no behavioral abnormality; normal movement; no musculature hypotonia; no broad forehead; facial asymmetry; no broad nasal tip; no thick lower lip vermilion; pointed chin; no ear abnormality; cardiac abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "developmental delay, failure to thrive, facial dysmorphism" "" "0000346260" "05611" "00457811" "00006" "Isolated (sporadic)" "02y" "see paper; ..., birth weight ≤2SD; motor delay; delayed speech/ language development; no intellectual disability; MRI brain abnormal; no broad forehead; no facial asymmetry; no broad nasal tip; no thick lower lip vermilion; pointed chin; no ear abnormality; no eye abnormalities; skeletal abnormalities; large open spinal dysraphism; bladder/bowel incontinence" "" "" "" "" "" "" "" "" "GADEVS" "facial dysmorphism, mildly delayed motor/speech development" "" "0000346261" "00198" "00457812" "00006" "Isolated (sporadic)" "21y" "see paper; ..., birth weight ≤2SD; motor delay; delayed speech/ language development; intellectual disability; no behavioral abnormality; MRI brain normal; musculature hypotonia; no broad forehead; no facial asymmetry; no broad nasal tip; no thick lower lip vermilion; pointed chin; ear abnormality; feeding difficulties; skeletal abnormalities; movement disorder (action tremor, cerebellar ataxia, dystonia, partial ocular apraxia)" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability, facial dysmorphism, movement disorder" "" "0000346262" "05611" "00457813" "00006" "Unknown" "11y" "see paper; ..., birth weight not ≤2SD; motor delay; delayed speech/language development; intellectual disability; no behavioral abnormality; abnormal movement; musculature hypotonia; broad forehead; no facial asymmetry; no broad nasal tip; no thick lower lip vermilion; pointed chin; no ear abnormality; no cardiac abnormalities; no feeding difficulties; skeletal abnormalities; altered gait with recurrent falls, abnormal posturing of limbs" "" "" "" "" "" "" "" "" "GADEVS" "altered gait, intellectual disability" "" "0000346263" "05611" "00457814" "00006" "Isolated (sporadic)" "10y" "see paper; ..., birth weight not ≤2SD; motor delay; delayed speech/ language development; intellectual disability; behavioral abnormality; abnormal movement; MRI brain abnormal; musculature hypotonia; broad forehead; facial asymmetry; no broad nasal tip; no thick lower lip vermilion; no pointed chin; ear abnormality; no cardiac abnormalities; feeding difficulties; recurrent infections; eye abnormalities; skeletal abnormalities" "" "" "" "" "" "" "" "" "GADEVS" "motor delay and, facial dysmorphism" "" "0000346264" "05611" "00457815" "00006" "Isolated (sporadic)" "32y" "see paper; ..., motor delay; delayed speech/ language development; intellectual disability; no behavioral abnormality; normal movement; musculature hypotonia; broad forehead; no facial asymmetry; no broad nasal tip; thick lower lip vermilion; no pointed chin; no ear abnormality; no cardiac abnormalities; no eye abnormalities; no skeletal abnormalities; dystonia" "" "" "" "" "" "" "" "" "GADEVS" "severe childhood-onset generalized dystonia" "" "0000346265" "05611" "00457816" "00006" "Isolated (sporadic)" "18y2m" "see paper; ..., 29m-walk; delayed speech; intellectual disability; no hypotonia; Anxiety, self-harm; normal movement; dysmetria; no cardiac abnormalities; no urologic abnormalities; campto-dactyly, hyperlaxity, scoliosis, long fingers; feeding disorders, constipation; no hair abnormalities; no endocrine abnormalities; no immune abnormalities; hyperopia superficial punctuated keratitis, nystagmus; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346266" "05611" "00457817" "00006" "Isolated (sporadic)" "16y7m" "see paper; ..., 9m-sit; 22m-walk; delayed speech; intellectual disability; no hypotonia; Anxiety, self-harm, stereotypies; normal movement; MRI brain normal; febrile seizures; no cardiac abnormalities; no urologic abnormalities; hyperlaxity; severe constipation, feeding disorders; no hair abnormalities; no endocrine abnormalities; no immune abnormalities; hyperopia, astigmatism; conductive, bilateral deafness 20-35dB" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346267" "05611" "00457818" "00006" "Isolated (sporadic)" "31y9m" "see paper; ..., 15m-sit; 54m-walk; speech simple sentences; intellectual disability; hypotonia; -; severe dystonia, spasticity; MRI brain normal; oculomotor disorder; no cardiac abnormalities; cryptorchidism; feeding disorders in infancy; no hair abnormalities; no endocrine abnormalities; no immune abnormalities; no ophthalmologic abnormalities; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346268" "05611" "00457819" "00006" "Isolated (sporadic)" "6y" "see paper; ..., 11m-sit; 18m-walk; normal language development; intellectual disability; hypotonia; ADHD; dystonia; MRI brain normal; atrial septum defect, ventricular septal defect; no urologic abnormalities; hyperlaxity; feeding disorders in infancy; thin hair; no endocrine abnormalities; no immune abnormalities; ophthalmologic abnormalities (unspecified); no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346269" "05611" "00457820" "00006" "Isolated (sporadic)" "6y2m" "see paper; ..., >9m-sit; 20m-walk; speech simple sentences; intellectual disability; hypotonia; Low frustration tolerance; normal movement; MRI brain aspecific FLAIR hyper-intensities; amyotrophy; finger hyperlaxity, long fingers; feeding disorders; thin hair; no immune abnormalities; convergent strabismus" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346270" "05611" "00457821" "00006" "Familial, autosomal dominant" "5y9m" "see paper; ..., 19m-sit; 66m-walk; no speech; intellectual disability; hypotonia; ASD; normal movement; MRI brain focal lesions of white matter; no cardiac abnormalities; unilateral cryptorchidism; occipital plagiocephaly hyperlaxity; feeding disorders; thin hair; no endocrine abnormalities; no immune abnormalities; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346271" "05611" "00457822" "00006" "Isolated (sporadic)" "4y9m" "see paper; ..., 54m-walk; no speech; intellectual disability; no hypotonia; Autism; normal movement; MRI brain benign enlargement of subarachnoid spaces; no cardiac abnormalities; no urologic abnormalities; no skeletal abnormalities; feeding disorders, constipation; thin hair; no endocrine abnormalities; no immune abnormalities; convergent strabismus, cortical vision abnormalities; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346272" "05611" "00457823" "00006" "Isolated (sporadic)" "2y1m" "see paper; ..., not ambulant; speech words; intellectual disability; hypotonia; ADHD, low frustration tolerance, stereotyped behavior; normal movement; MRI brain normal; congenital torticollis; week tendon reflexes; bilateral cryptorchidism; turricephaly; sparse hair; recurrent infections; convergent strabismus; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346273" "05611" "00457824" "00006" "Isolated (sporadic)" "2y10m" "see paper; ..., 8m-sit; 18m-walk; speech simple sentences; intellectual disability; hypotonia; ASD, aggressive-ness; normal movement; MRI brain enlargement of subarachnoid spaces, perimesen-cephalic lipoma; no urologic abnormalities; no skeletal abnormalities; feeding disorders; no hair abnormalities; no endocrine abnormalities; no immune abnormalities; strabismus, amblyopia, astigmatism; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346274" "05611" "00457825" "00006" "Isolated (sporadic)" "8y1m" "see paper; ..., 18m-walk; normal language development; learning difficulties; no hypotonia; Trouble focusing; facial tics, Tourette syndrome; gait imbalance, exercise-induced muscle fatigue; no cardiac abnormalities; no urologic abnormalities; joint hyperlaxity; feeding disorders; sparse hair; no endocrine abnormalities; no immune abnormalities; strabismus; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346275" "05611" "00457826" "00006" "Isolated (sporadic)" "25y7mo" "see paper; ..., 9m-sit; 18m-walk; normal language development; intellectual disability; no hypotonia; Anxiety; normal movement; no cardiac abnormalities; no urologic abnormalities; scoliosis, joint pain; feeding disorders in infancy chronic constipation; facial hirsutism; hypo-thyroidism; recurrent infections; strabismus myopia; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" "0000346276" "05611" "00457827" "00006" "Isolated (sporadic)" "20y6m" "see paper; ..., 8m-sit; 15m-walk; speech simple sentences; intellectual disability; no hypotonia; ADHD, ASD, OCD, anxiety, aggressiveness; generalized dystonia; MRI brain suspected focal cortical dysplasia, aspecific T2 hyperintensity foci; no cardiac abnormalities; no urologic abnormalities; Scheuerman’s kyphosis (spinal fusion); feeding disorders, G-tube feeding; no hair abnormalities; thyroid nodule; no immune abnormalities; ophthalmologic abnormalities; no deafness" "" "" "" "" "" "" "" "" "GADEVS" "intellectual disability syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 47 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000145307" "00144449" "0" "01807" "01807" "2017-12-14 17:18:50" "" "" "SEQ" "DNA" "" "" "0000325601" "00324411" "1" "00006" "00006" "2020-12-11 17:27:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000445315" "00443818" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ" "DNA" "" "" "0000459372" "00457752" "1" "01164" "01164" "2024-11-18 16:42:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000459400" "00457780" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459401" "00457781" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459402" "00457782" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459403" "00457783" "1" "00006" "00006" "2024-11-19 11:17:49" "00006" "2024-11-19 11:20:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000459404" "00457784" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459405" "00457785" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459406" "00457786" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459407" "00457787" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459408" "00457788" "1" "00006" "00006" "2024-11-19 11:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459410" "00457790" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459411" "00457791" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459412" "00457792" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459413" "00457793" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459414" "00457794" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459415" "00457795" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459416" "00457796" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459417" "00457797" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459418" "00457798" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459419" "00457799" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459420" "00457800" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459421" "00457801" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459422" "00457802" "1" "00006" "00006" "2024-11-19 12:07:08" "" "" "arrayCGH" "DNA" "" "" "0000459425" "00457806" "1" "00006" "00006" "2024-11-19 14:29:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459428" "00457808" "1" "00006" "00006" "2024-11-19 14:54:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000459429" "00457809" "1" "00006" "00006" "2024-11-19 15:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459430" "00457810" "1" "00006" "00006" "2024-11-19 15:14:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459431" "00457811" "1" "00006" "00006" "2024-11-19 15:24:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000459432" "00457812" "1" "00006" "00006" "2024-11-19 15:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459433" "00457813" "1" "00006" "00006" "2024-11-19 15:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "clincal WES" "0000459434" "00457814" "1" "00006" "00006" "2024-11-19 15:57:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459435" "00457815" "1" "00006" "00006" "2024-11-19 16:03:30" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459436" "00457816" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459437" "00457817" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459438" "00457818" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "arrayCGH" "DNA" "" "" "0000459439" "00457819" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459440" "00457820" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459441" "00457821" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459442" "00457822" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459443" "00457823" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459444" "00457824" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459445" "00457825" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459446" "00457826" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459447" "00457827" "1" "00006" "00006" "2024-11-19 20:52:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000325601" "YY1" "0000459372" "YY1" ## 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 = 77 "{{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}}" "0000236409" "0" "90" "14" "100706049" "100706064" "del" "0" "01807" "YY1_000001" "g.100706049_100706064del" "" "" "" "468_483delCGGCAAGAGCGGCGGC" "" "Unknown" "" "" "0" "" "" "g.100239712_100239727del" "" "pathogenic" "" "0000323839" "0" "50" "14" "100705749" "100705766" "del" "0" "01804" "YY1_000003" "g.100705749_100705766del" "" "" "" "YY1(NM_003403.3):c.158_175del (p.(Gly56_Gly61del)), YY1(NM_003403.5):c.168_185delTGGCGACCACGGCGGCGG (p.D58_G63del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100239412_100239429del" "" "VUS" "" "0000323840" "0" "30" "14" "100706038" "100706038" "subst" "1.77727E-5" "01804" "YY1_000005" "g.100706038G>A" "" "" "" "YY1(NM_003403.4):c.457G>A (p.(Val153Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100239701G>A" "" "likely benign" "" "0000323842" "0" "50" "14" "100728682" "100728682" "subst" "0" "01804" "YY1_000007" "g.100728682C>G" "" "" "" "YY1(NM_003403.3):c.721C>G (p.(Gln241Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100262345C>G" "" "VUS" "" "0000323844" "0" "50" "14" "100742986" "100742987" "ins" "0" "01804" "SLC25A29_000004" "g.100742986_100742987insCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA" "" "" "" "YY1(NM_003403.3):c.1062+1_1062+2insCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100276649_100276650insCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA" "" "VUS" "" "0000345450" "0" "30" "14" "100705722" "100705722" "subst" "0.0028522" "02327" "YY1_000002" "g.100705722G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100239385G>C" "" "likely benign" "" "0000347123" "0" "90" "14" "100743789" "100743789" "subst" "0" "02327" "YY1_000003" "g.100743789T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100277452T>C" "" "pathogenic" "" "0000551141" "0" "50" "14" "100743860" "100743860" "subst" "0" "02327" "SLC25A29_000003" "g.100743860T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100277523T>G" "" "VUS" "" "0000614688" "0" "30" "14" "100705875" "100705875" "subst" "0" "02327" "YY1_000008" "g.100705875C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100239538C>T" "" "likely benign" "" "0000623079" "0" "90" "14" "100706149" "100706162" "del" "0" "02325" "YY1_000009" "g.100706149_100706162del" "" "" "" "YY1(NM_003403.5):c.568_581delGCCGGCGCGGCGGG (p.A190Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100239812_100239825del" "" "pathogenic" "" "0000708725" "0" "90" "14" "100743830" "100743830" "subst" "0" "00006" "YY1_000010" "g.100743830G>T" "" "{PMID:Vissers 2010:21076407}, {PMID:Gabriele 2017:28575647}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000891573" "0" "50" "14" "100705984" "100705984" "subst" "0" "02325" "YY1_000011" "g.100705984G>T" "" "" "" "YY1(NM_003403.5):c.403G>T (p.V135L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891574" "0" "30" "14" "100706121" "100706121" "subst" "0" "02325" "YY1_000012" "g.100706121C>T" "" "" "" "YY1(NM_003403.5):c.540C>T (p.S180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891575" "0" "70" "14" "100706212" "100706212" "subst" "0" "02327" "YY1_000013" "g.100706212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914119" "0" "70" "14" "100743908" "100743908" "subst" "0" "02327" "SLC25A29_000005" "g.100743908A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000952229" "0" "90" "14" "100706149" "100706162" "del" "0" "00006" "YY1_000009" "g.100706149_100706162del" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.100239812_100239825del" "" "pathogenic (dominant)" "" "0000967359" "0" "50" "14" "100705749" "100705766" "del" "0" "02325" "YY1_000003" "g.100705749_100705766del" "" "" "" "YY1(NM_003403.3):c.158_175del (p.(Gly56_Gly61del)), YY1(NM_003403.5):c.168_185delTGGCGACCACGGCGGCGG (p.D58_G63del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967360" "0" "90" "14" "100706085" "100706085" "dup" "0" "02325" "YY1_000014" "g.100706085dup" "" "" "" "YY1(NM_003403.5):c.504dupA (p.G169Rfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980725" "0" "50" "14" "100705719" "100705724" "del" "0" "01804" "YY1_000015" "g.100705719_100705724del" "" "" "" "YY1(NM_003403.5):c.138_143del (p.(Glu46_Glu47del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980726" "0" "30" "14" "100705806" "100705814" "del" "0" "01804" "YY1_000016" "g.100705806_100705814del" "" "" "" "YY1(NM_003403.5):c.225_233del (p.(His78_His80del)), YY1(NM_003403.5):c.225_233delTCACCACCA (p.H78_H80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980727" "0" "30" "14" "100706010" "100706010" "subst" "4.28079E-6" "01804" "YY1_000017" "g.100706010C>G" "" "" "" "YY1(NM_003403.5):c.429C>G (p.(Asp143Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980728" "0" "50" "14" "100706222" "100706222" "subst" "0" "01804" "YY1_000018" "g.100706222C>T" "" "" "" "YY1(NM_003403.5):c.641C>T (p.(Thr214Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000653" "0" "30" "14" "100706013" "100706013" "subst" "1.28656E-5" "01804" "YY1_000019" "g.100706013C>A" "" "" "" "YY1(NM_003403.4):c.432C>A (p.(Asp144Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000654" "0" "30" "14" "100706015" "100706015" "subst" "1.28766E-5" "01804" "YY1_000020" "g.100706015A>T" "" "" "" "YY1(NM_003403.4):c.434A>T (p.(Tyr145Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017390" "0" "70" "14" "100743864" "100743890" "del" "0" "01164" "YY1_000021" "g.100743864_100743890del" "" "" "" "" "ACMG: PM1, PM4, PS2_SUP, PM2_SUP; confirmed de novo" "De novo" "-" "" "0" "" "" "g.100277527_100277553del" "" "likely pathogenic (dominant)" "ACMG" "0001017422" "0" "90" "14" "100743789" "100743789" "subst" "0" "00006" "YY1_000003" "g.100743789T>C" "" "{PMID:Gabriele 2017:28575647}" "" "" "" "De novo" "" "" "0" "" "" "g.100277452T>C" "" "pathogenic (dominant)" "" "0001017423" "0" "90" "14" "100743788" "100743788" "subst" "0" "00006" "YY1_000057" "g.100743788C>G" "" "{PMID:Gabriele 2017:28575647}" "" "" "" "De novo" "" "" "0" "" "" "g.100277451C>G" "" "pathogenic (dominant)" "" "0001017424" "0" "90" "14" "100742953" "100742953" "subst" "0" "00006" "YY1_000055" "g.100742953C>T" "" "{PMID:Gabriele 2017:28575647}" "" "" "" "De novo" "" "" "0" "" "" "g.100276616C>T" "" "pathogenic (dominant)" "" "0001017425" "0" "90" "14" "100706116" "100706116" "subst" "0" "00006" "YY1_000022" "g.100706116A>T" "" "{PMID:Gabriele 2017:28575647}" "" "" "transcript degraded by NMD" "De novo" "" "" "0" "" "" "g.100239779A>T" "" "pathogenic (dominant)" "" "0001017426" "0" "90" "14" "100743865" "100743865" "del" "0" "00006" "YY1_000025" "g.100743865del" "" "{PMID:Gabriele 2017:28575647}" "" "1173delT" "" "De novo" "" "" "0" "" "" "g.100277528del" "" "pathogenic (dominant)" "" "0001017427" "0" "90" "14" "100743869" "100743871" "del" "0" "00006" "YY1_000061" "g.100743869_100743871del" "" "{PMID:Gabriele 2017:28575647}" "" "1174_1176del" "" "De novo" "" "" "0" "" "" "g.100277532_100277534del" "" "pathogenic (dominant)" "" "0001017428" "0" "90" "14" "100705966" "100705966" "del" "0" "00006" "YY1_000044" "g.100705966del" "" "{PMID:Gabriele 2017:28575647}" "" "385delG" "" "De novo" "" "" "0" "" "" "g.100239629del" "" "pathogenic (dominant)" "" "0001017429" "0" "90" "14" "100742938" "100742938" "subst" "0" "00006" "YY1_000054" "g.100742938A>C" "" "{PMID:Gabriele 2017:28575647}" "" "" "" "De novo" "" "" "0" "" "" "g.100276601A>C" "" "pathogenic (dominant)" "" "0001017430" "0" "90" "14" "100742881" "100742881" "subst" "0" "00006" "YY1_000050" "g.100742881C>T" "" "{PMID:Gabriele 2017:28575647}" "" "" "" "De novo" "" "" "0" "" "" "g.100276544C>T" "" "pathogenic (dominant)" "" "0001017433" "0" "90" "14" "88550163" "101828366" "del" "0" "00006" "YY1_000032" "g.(?_88550163)_(101828366_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 88550163-101828366" "13.3 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_88083820)_(101362023_?)del" "" "pathogenic (dominant)" "" "0001017434" "0" "90" "14" "96723247" "100938073" "del" "0" "00006" "YY1_000033" "g.(?_96723247)_(100938073_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 96723247-100938073" "4.2 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_96256910)_(100471736_?)del" "" "pathogenic (dominant)" "" "0001017435" "0" "90" "14" "98099681" "107268432" "del" "0" "00006" "YY1_000034" "g.(?_98099681)_(107268432_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 98099681-107268432" "9.2 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_97633344)_(106802095_?)del" "" "pathogenic (dominant)" "" "0001017436" "0" "90" "14" "98534687" "101064183" "del" "0" "00006" "YY1_000035" "g.(?_98534687)_(101064183_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 98534687-101064183" "2.5 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_98068350)_(100597846_?)del" "" "pathogenic (dominant)" "" "0001017437" "0" "90" "14" "99200000" "100900000" "del" "0" "00006" "YY1_000036" "g.(?_99200000)_(100900000_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 99200000-100900000" "1.8 Mb deletion" "Somatic" "" "" "0" "" "" "g.(?_98733663)_(100433663_?)del" "" "pathogenic (dominant)" "" "0001017438" "0" "90" "14" "99357235" "103249889" "del" "0" "00006" "YY1_000037" "g.(?_99357235)_(103249889_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 99357235-103249889" "3.9 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_98890898)_(102783552_?)del" "" "pathogenic (dominant)" "" "0001017439" "0" "90" "14" "99700000" "101200000" "del" "0" "00006" "YY1_000038" "g.(?_99700000)_(101200000_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 99700000-101200000" "1.5 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_99233663)_(100733663_?)del" "" "pathogenic (dominant)" "" "0001017440" "21" "90" "14" "100260674" "105692495" "del" "0" "00006" "YY1_000039" "g.(?_100260674)_(105692495_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 100260674-105692495" "5.4 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_99794340)_(105226161_?)del" "" "pathogenic (dominant)" "" "0001017441" "11" "90" "14" "100397065" "101502752" "del" "0" "00006" "YY1_000040" "g.(?_100397065)_(101502752_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 100397065-101502752" "1.1 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_99930728)_(101036415_?)del" "" "pathogenic (dominant)" "" "0001017442" "0" "90" "14" "100508222" "100771805" "del" "0" "00006" "YY1_000042" "g.(?_100508222)_(100771805_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 100508222-100771805" "0.3 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_100041885)_(100305468_?)del" "" "pathogenic (dominant)" "" "0001017443" "0" "90" "14" "100508222" "102235753" "del" "0" "00006" "YY1_000043" "g.(?_100508222)_(102235753_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 100508222-102235753" "1.7 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_100041885)_(101769416_?)del" "" "pathogenic (recessive)" "" "0001017444" "0" "90" "14" "100716801" "100791356" "del" "0" "00006" "YY1_000046" "g.(?_100716801)_(100791356_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 100716801-100791356" "0.1 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_100250464)_(100325019_?)del" "" "pathogenic (recessive)" "" "0001017445" "0" "90" "14" "100735192" "101126789" "del" "0" "00006" "YY1_000048" "g.(?_100735192)_(101126789_?)del" "" "{PMID:Gabriele 2017:28575647}" "" "hg19 del 100735192-101126789" "0.4 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_100268855)_(100660452_?)del" "" "pathogenic (recessive)" "" "0001017449" "0" "90" "14" "100743798" "100743798" "subst" "0" "00006" "YY1_000023" "g.100743798A>G" "" "{PMID:Dos Santos 2022:35829845}" "" "" "" "De novo" "-" "" "0" "" "" "g.100277461A>G" "" "pathogenic (dominant)" "" "0001017451" "0" "90" "14" "100706039" "100706057" "del" "0" "00006" "YY1_000024" "g.100706039_100706057del" "" "{PMID:Yang 2024:37658636}" "" "" "" "De novo" "-" "" "0" "" "" "g.100239702_100239720del" "" "pathogenic (dominant)" "" "0001017452" "0" "90" "14" "100741052" "100741056" "del" "0" "00006" "YY1_000026" "g.100741052_100741056del" "" "{PMID:Morales-Rosado 2018:30549423}" "" "860_864delTTAAAA" "" "De novo" "" "" "0" "" "" "g.100274715_100274719del" "" "pathogenic (dominant)" "" "0001017454" "11" "90" "14" "100743816" "100743816" "subst" "0" "00006" "YY1_000027" "g.100743816G>A" "" "{PMID:Tan 2020:33369188}" "" "" "" "De novo" "-" "" "0" "" "" "g.100277479G>A" "" "pathogenic (dominant)" "" "0001017455" "0" "70" "14" "100705582" "100705582" "subst" "0" "00006" "YY1_000028" "g.100705582A>G" "" "{PMID:Koruga 2021:37189872}" "" "" "" "De novo" "-" "" "0" "" "" "g.100239245A>G" "" "likely pathogenic (dominant)" "" "0001017458" "0" "90" "14" "100742830" "100742830" "subst" "0" "00006" "YY1_000029" "g.100742830T>C" "" "{PMID:Carminho-Rodrigues 2020:32627382}" "" "" "" "De novo" "-" "" "0" "" "" "g.100276493T>C" "" "pathogenic (dominant)" "" "0001017459" "0" "90" "14" "100728651" "100728651" "del" "0" "00006" "YY1_000030" "g.100728651del" "" "{PMID:Balakrishnan 2021:34456245}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.100262314del" "" "pathogenic (dominant)" "" "0001017460" "0" "90" "14" "100728651" "100728651" "del" "0" "00006" "YY1_000030" "g.100728651del" "" "{PMID:Khamirani 2022:34729769}" "" "c.690delA" "" "De novo" "-" "" "0" "" "" "g.100262314del" "" "pathogenic (dominant)" "" "0001017461" "0" "90" "14" "100743810" "100743811" "del" "0" "00006" "YY1_000031" "g.100743810_100743811del" "" "{PMID:Zorzi 2021:33638881}" "" "1118_1119delAT" "" "De novo" "-" "" "0" "" "" "g.100277473_100277474del" "" "pathogenic (dominant)" "" "0001017462" "0" "90" "14" "100742930" "100742930" "subst" "0" "00006" "YY1_000053" "g.100742930A>G" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 88550163-101828366" "" "De novo" "" "" "0" "" "" "g.100276593A>G" "" "pathogenic (dominant)" "" "0001017463" "0" "90" "14" "100743804" "100743804" "subst" "0" "00006" "YY1_000058" "g.100743804G>A" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 96723247-100938073" "" "De novo" "" "" "0" "" "" "g.100277467G>A" "" "pathogenic (dominant)" "" "0001017464" "0" "90" "14" "100402364" "101351127" "del" "0" "00006" "YY1_000041" "g.(?_100402364)_(101351127_?)del" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 98099681-107268432" "" "De novo" "" "" "0" "" "arr[GRCh37]14q32.2(100402364-101351127)x1" "g.(?_g.99936027)_(100884790del_?)del" "" "pathogenic (dominant)" "" "0001017465" "0" "90" "14" "100742924" "100742924" "subst" "0" "00006" "YY1_000052" "g.100742924T>C" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 98534687-101064183" "" "De novo" "" "" "0" "" "" "g.100276587T>C" "" "pathogenic (dominant)" "" "0001017466" "0" "90" "14" "100743843" "100743846" "dup" "0" "00006" "YY1_000060" "g.100743843_100743846dup" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 99200000-100900000" "" "De novo" "" "" "0" "" "" "g.100277506_100277509dup" "" "pathogenic (dominant)" "" "0001017467" "11" "90" "14" "100743759" "100743759" "subst" "0" "00006" "YY1_000056" "g.100743759C>T" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 99357235-103249889" "" "Germline" "" "" "0" "" "" "g.100277422C>T" "" "pathogenic (dominant)" "" "0001017468" "0" "90" "14" "100743813" "100743813" "subst" "0" "00006" "YY1_000059" "g.100743813T>G" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 99700000-101200000" "" "De novo" "" "" "0" "" "" "g.100277476T>G" "" "pathogenic (dominant)" "" "0001017469" "0" "90" "14" "100742882" "100742882" "subst" "0" "00006" "YY1_000051" "g.100742882A>G" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 100260674-105692495" "" "De novo" "" "" "0" "" "" "g.100276545A>G" "" "pathogenic (dominant)" "" "0001017470" "0" "90" "14" "100706108" "100706108" "subst" "0" "00006" "YY1_000045" "g.100706108G>A" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 100397065-101502752" "" "De novo" "" "" "0" "" "" "g.100239771G>A" "" "pathogenic (dominant)" "" "0001017471" "0" "90" "14" "100728651" "100728651" "dup" "0" "00006" "YY1_000047" "g.100728651dup" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 100508222-100771805" "" "De novo" "" "" "0" "" "" "g.100262314dup" "" "pathogenic (dominant)" "" "0001017472" "0" "90" "14" "100743816" "100743816" "subst" "0" "00006" "YY1_000027" "g.100743816G>A" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 100508222-102235753" "" "De novo" "" "" "0" "" "" "g.100277479G>A" "" "pathogenic (dominant)" "" "0001017473" "0" "90" "14" "100742831" "100742831" "subst" "0" "00006" "YY1_000049" "g.100742831G>T" "" "{PMID: Cherik 2022:35027293}" "" "hg19 del 100716801-100791356" "" "De novo" "" "" "0" "" "" "g.100276494G>T" "" "pathogenic (dominant)" "" "0001026346" "0" "50" "14" "100705806" "100705814" "del" "0" "02325" "YY1_000016" "g.100705806_100705814del" "" "" "" "YY1(NM_003403.5):c.225_233del (p.(His78_His80del)), YY1(NM_003403.5):c.225_233delTCACCACCA (p.H78_H80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039758" "0" "50" "14" "100702980" "100702980" "subst" "0" "01804" "YY1_000062" "g.100702980C>T" "" "" "" "YY1(NM_003403.5):c.-2602C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039759" "0" "50" "14" "100705604" "100705604" "subst" "0" "01804" "YY1_000063" "g.100705604A>G" "" "" "" "YY1(NM_003403.5):c.23A>G (p.(Tyr8Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039760" "0" "50" "14" "100705722" "100705724" "dup" "0" "01804" "YY1_000064" "g.100705722_100705724dup" "" "" "" "YY1(NM_003403.5):c.141_143dup (p.(Glu47dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039761" "0" "30" "14" "100705725" "100705725" "subst" "3.28192E-5" "01804" "YY1_000065" "g.100705725C>G" "" "" "" "YY1(NM_003403.5):c.144C>G (p.(Asp48Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039762" "0" "30" "14" "100705731" "100705736" "del" "0" "01804" "YY1_000066" "g.100705731_100705736del" "" "" "" "YY1(NM_003403.5):c.150_155del (p.(Asp50_Asp51del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039763" "0" "30" "14" "100706075" "100706075" "subst" "0" "01804" "YY1_000067" "g.100706075C>T" "" "" "" "YY1(NM_003403.5):c.494C>T (p.(Ser165Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039764" "0" "30" "14" "100706120" "100706120" "subst" "6.43087E-6" "01804" "YY1_000068" "g.100706120G>A" "" "" "" "YY1(NM_003403.5):c.539G>A (p.(Ser180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039765" "0" "50" "14" "100744170" "100744170" "subst" "0" "01804" "SLC25A29_000006" "g.100744170T>C" "" "" "" "YY1(NM_003403.5):c.*233T>C" "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 YY1 ## Count = 77 "{{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}}" "0000236409" "00025587" "90" "468" "0" "483" "0" "c.468_483del" "r.(?)" "p.(Gly157Alafs*94)" "" "0000323839" "00025587" "50" "168" "0" "185" "0" "c.168_185del" "r.(?)" "p.(Asp58_Gly63del)" "" "0000323840" "00025587" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Met)" "" "0000323842" "00025587" "50" "721" "0" "721" "0" "c.721C>G" "r.(?)" "p.(Gln241Glu)" "" "0000323844" "00025587" "50" "1062" "1" "1062" "2" "c.1062+1_1062+2insCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA" "r.spl?" "p.?" "" "0000345450" "00025587" "30" "141" "0" "141" "0" "c.141G>C" "r.(?)" "p.(Glu47Asp)" "" "0000347123" "00025587" "90" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "0000551141" "00025587" "50" "1168" "0" "1168" "0" "c.1168T>G" "r.(?)" "p.(Cys390Gly)" "" "0000614688" "00025587" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(His98=)" "" "0000623079" "00025587" "90" "568" "0" "581" "0" "c.568_581del" "r.(?)" "p.(Ala190ArgfsTer34)" "" "0000708725" "00025587" "90" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Asp380Tyr)" "" "0000891573" "00025587" "50" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Val135Leu)" "" "0000891574" "00025587" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Ser180=)" "" "0000891575" "00025587" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Gln211*)" "" "0000914119" "00025587" "70" "1216" "0" "1216" "0" "c.1216A>G" "r.(?)" "p.(Thr406Ala)" "" "0000952229" "00025587" "90" "568" "0" "581" "0" "c.568_581del" "r.(?)" "p.(Ala190ArgfsTer34)" "" "0000967359" "00025587" "50" "168" "0" "185" "0" "c.168_185del" "r.(?)" "p.(Asp58_Gly63del)" "" "0000967360" "00025587" "90" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Gly169Argfs*60)" "" "0000980725" "00025587" "50" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Glu46_Glu47del)" "" "0000980726" "00025587" "30" "225" "0" "233" "0" "c.225_233del" "r.(?)" "p.(His78_His80del)" "" "0000980727" "00025587" "30" "429" "0" "429" "0" "c.429C>G" "r.(?)" "p.(Asp143Glu)" "" "0000980728" "00025587" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Ile)" "" "0001000653" "00025587" "30" "432" "0" "432" "0" "c.432C>A" "r.(?)" "p.(Asp144Glu)" "" "0001000654" "00025587" "30" "434" "0" "434" "0" "c.434A>T" "r.(?)" "p.(Tyr145Phe)" "" "0001017390" "00025587" "70" "1172" "0" "1198" "0" "c.1172_1198del" "r.(1172_1198del)" "p.(Asn391_Leu400delinsMet)" "5" "0001017422" "00025587" "90" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "0001017423" "00025587" "90" "1096" "0" "1096" "0" "c.1096C>G" "r.(?)" "p.(Leu366Val)" "" "0001017424" "00025587" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Gln344Ter)" "" "0001017425" "00025587" "90" "535" "0" "535" "0" "c.535A>T" "r.535a>u" "p.Lys179Ter" "" "0001017426" "00025587" "90" "1173" "0" "1173" "0" "c.1173del" "r.(?)" "p.(Asn391LysfsTer10)" "" "0001017427" "00025587" "90" "1177" "0" "1179" "0" "c.1177_1179del" "r.(?)" "p.(Lys393del)" "" "0001017428" "00025587" "90" "385" "0" "385" "0" "c.385del" "r.(?)" "p.(Asp129IlefsTer127)" "" "0001017429" "00025587" "90" "1015" "0" "1015" "0" "c.1015A>C" "r.(?)" "p.(Lys339Gln)" "" "0001017430" "00025587" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(His320Tyr)" "" "0001017433" "00025587" "90" "" "0" "" "0" "c.(?_-12155419)_(*1084429_?)del" "r.0" "p.0" "_1_5_" "0001017434" "00025587" "90" "" "0" "" "0" "c.(?_-3982335)_(*194136_?)del" "r.0" "p.0" "_1_5_" "0001017435" "00025587" "90" "" "0" "" "0" "c.(?_-2605901)_(*6524495_?)del" "r.0" "p.0" "_1_5_" "0001017436" "00025587" "90" "" "0" "" "0" "c.(?_-2170895)_(*320246_?)del" "r.0" "p.0" "_1_5_" "0001017437" "00025587" "90" "" "0" "" "0" "c.(?_-1505582)_(*156063_?)del" "r.0" "p.0" "_1_5_" "0001017438" "00025587" "90" "" "0" "" "0" "c.(?_-1348347)_(*2505952_?)del" "r.0" "p.0" "_1_5_" "0001017439" "00025587" "90" "" "0" "" "0" "c.(?_-1005582)_(*456063_?)del" "r.0" "p.0" "_1_5_" "0001017440" "00025587" "90" "" "0" "" "0" "c.(?_-444908)_(*4948558_?)del" "r.0" "p.0" "_1_5_" "0001017441" "00025587" "90" "" "0" "" "0" "c.(?_-308517)_(*758815_?)del" "r.0" "p.0" "_1_5_" "0001017442" "00025587" "90" "" "0" "" "0" "c.(?_-197360)_(*27868_?)del" "r.0" "p.0" "_1_5_" "0001017443" "00025587" "90" "" "0" "" "0" "c.(?_-197360)_(*1491816_?)del" "r.0" "p.0" "_1_5_" "0001017444" "00025587" "90" "" "0" "" "0" "c.(?_679+10541)_(*47419_?)del" "r.?" "p.?" "_1i_5_" "0001017445" "00025587" "90" "" "0" "" "0" "c.(?_843-5843)_(*382852_?)del" "r.?" "p.?" "_2i_5_" "0001017449" "00025587" "90" "1106" "0" "1106" "0" "c.1106A>G" "r.(?)" "p.(Asn369Ser)" "" "0001017451" "00025587" "90" "458" "0" "476" "0" "c.458_476del" "r.(?)" "p.(Val153Alafs*97)" "1" "0001017452" "00025587" "90" "860" "0" "864" "0" "c.860_864del" "r.(?)" "p.(Ile287Argfs*3)" "3" "0001017454" "00025587" "90" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Arg375Gln)" "5" "0001017455" "00025587" "70" "1" "0" "1" "0" "c.1A>G" "r.?" "p.Met1?" "1" "0001017458" "00025587" "90" "907" "0" "907" "0" "c.907T>C" "r.(?)" "p.(Cys303Arg)" "4" "0001017459" "00025587" "90" "690" "0" "690" "0" "c.690del" "r.(?)" "p.(Asp231Ilefs*25)" "" "0001017460" "00025587" "90" "690" "0" "690" "0" "c.690del" "r.(?)" "p.(Asp231Ilefs*25)" "2" "0001017461" "00025587" "90" "1118" "0" "1119" "0" "c.1118_1119del" "r.(?)" "p.(His373Argfs*18)" "" "0001017462" "00025587" "90" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Glu336Gly)" "" "0001017463" "00025587" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "" "0001017464" "00025587" "90" "" "0" "" "0" "c.-303218_*607190del" "r.0" "p.0" "_1_5_" "0001017465" "00025587" "90" "1001" "0" "1001" "0" "c.1001T>C" "r.(?)" "p.(Phe334Ser)" "" "0001017466" "00025587" "90" "1151" "0" "1154" "0" "c.1151_1154dup" "r.(?)" "p.(Pro386ValfsTer7)" "" "0001017467" "00025587" "90" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "0001017468" "00025587" "90" "1121" "0" "1121" "0" "c.1121T>G" "r.(?)" "p.(Val374Gly)" "" "0001017469" "00025587" "90" "959" "0" "959" "0" "c.959A>G" "r.(?)" "p.(His320Arg)" "" "0001017470" "00025587" "90" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Gly176Asp)" "" "0001017471" "00025587" "90" "690" "0" "690" "0" "c.690dup" "r.(?)" "p.(Asp231ArgfsTer3)" "" "0001017472" "00025587" "90" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Arg375Gln)" "" "0001017473" "00025587" "90" "908" "0" "908" "0" "c.908G>T" "r.(?)" "p.(Cys303Phe)" "" "0001026346" "00025587" "50" "225" "0" "233" "0" "c.225_233del" "r.(?)" "p.(His78_His80del)" "" "0001039758" "00025587" "50" "-2602" "0" "-2602" "0" "c.-2602C>T" "r.(?)" "p.(=)" "" "0001039759" "00025587" "50" "23" "0" "23" "0" "c.23A>G" "r.(?)" "p.(Tyr8Cys)" "" "0001039760" "00025587" "50" "141" "0" "143" "0" "c.141_143dup" "r.(?)" "p.(Glu47dup)" "" "0001039761" "00025587" "30" "144" "0" "144" "0" "c.144C>G" "r.(?)" "p.(Asp48Glu)" "" "0001039762" "00025587" "30" "150" "0" "155" "0" "c.150_155del" "r.(?)" "p.(Asp50_Asp51del)" "" "0001039763" "00025587" "30" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ser165Leu)" "" "0001039764" "00025587" "30" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Ser180Asn)" "" "0001039765" "00025587" "50" "1478" "0" "1478" "0" "c.*233T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{variantid}}" "0000145307" "0000236409" "0000325601" "0000708725" "0000445315" "0000952229" "0000459372" "0001017390" "0000459400" "0001017422" "0000459401" "0001017423" "0000459402" "0001017424" "0000459403" "0001017425" "0000459404" "0001017426" "0000459405" "0001017427" "0000459406" "0001017428" "0000459407" "0001017429" "0000459408" "0001017430" "0000459410" "0001017433" "0000459411" "0001017434" "0000459412" "0001017435" "0000459413" "0001017436" "0000459414" "0001017437" "0000459415" "0001017438" "0000459416" "0001017439" "0000459417" "0001017440" "0000459418" "0001017441" "0000459419" "0001017442" "0000459420" "0001017443" "0000459421" "0001017444" "0000459422" "0001017445" "0000459425" "0001017449" "0000459428" "0001017451" "0000459429" "0001017452" "0000459430" "0001017454" "0000459431" "0001017455" "0000459432" "0001017458" "0000459433" "0001017459" "0000459434" "0001017460" "0000459435" "0001017461" "0000459436" "0001017462" "0000459437" "0001017463" "0000459438" "0001017464" "0000459439" "0001017465" "0000459440" "0001017466" "0000459441" "0001017467" "0000459442" "0001017468" "0000459443" "0001017469" "0000459444" "0001017470" "0000459445" "0001017471" "0000459446" "0001017472" "0000459447" "0001017473"