### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHD2) # 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}}" "CHD2" "chromodomain helicase DNA binding protein 2" "15" "q26" "unknown" "NG_012826.2" "UD_132119089887" "" "https://www.LOVD.nl/CHD2" "" "1" "1917" "1106" "602119" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CHD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-06 18:22:21" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005079" "CHD2" "transcript variant 1" "001" "NM_001271.3" "" "NP_001262.3" "" "" "" "-575" "8789" "5487" "93443551" "93571237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "03912" "EEOC" "encephalopathy, epileptic, childhood-onset (EEOC)" "AD" "615369" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:22:59" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CHD2" "03912" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00050490" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050714" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080924" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00116811" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_12:0/1:CONTROL" "00116852" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_193:0/1:CONTROL" "00116994" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_518:0/1:CONTROL" "00117001" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_528:0/1:CONTROL" "00117052" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_621:0/1:TYPICAL_RE" "00117069" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_663:0/1:TYPICAL_RE" "00117091" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_710:0/1:TYPICAL_RE" "00248139" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00266172" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291348" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299440" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00302783" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "F" "" "Canada" "" "0" "" "" "" "1396.504" "00302977" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat22" "00302978" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat23" "00303094" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T38" "00303095" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T18697" "00303096" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T2608" "00303097" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T20240" "00303098" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T17756" "00303099" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T18431" "00305973" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Denmark" "" "0" "" "" "" "Pat4" "00305974" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:27781031}" "2-generation family, 1 affected, unaffected parents" "M" "" "Denmark" "" "0" "" "" "" "Pat5" "00308038" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat17" "00320142" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00334913" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "M" "no" "Italy" "" "0" "" "" "" "PME11" "00362027" "" "" "" "1" "" "00006" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "" "" "" "0" "" "" "" "PME48" "00374245" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6496" "00374688" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4228" "00391871" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "095P" "00427797" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "" "F" "" "China" "" "0" "" "" "" "Pat101" "00434903" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00438347" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat65" "00438356" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat74" "00455823" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat63" "00457963" "" "" "" "1" "" "00006" "{PMID:Ganesh 2024:39442041}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat1" "00458041" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00465962" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "" "" "00468745" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470463" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat91" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00050490" "00198" "00050714" "00198" "00080924" "03912" "00116811" "00000" "00116852" "00000" "00116994" "00000" "00117001" "00000" "00117052" "05315" "00117069" "05315" "00117091" "05315" "00291348" "00198" "00299440" "00198" "00302783" "00139" "00302977" "05521" "00302978" "05521" "00303094" "00344" "00303095" "00344" "00303096" "00344" "00303097" "00344" "00303098" "00344" "00303099" "00344" "00305973" "04270" "00305974" "04270" "00308038" "00198" "00320142" "00198" "00334913" "04270" "00362027" "04270" "00374245" "00198" "00374688" "00198" "00391871" "03912" "00427797" "04270" "00434903" "00139" "00438347" "04270" "00438356" "04270" "00455823" "00198" "00457963" "05611" "00458041" "05611" "00465962" "05611" "00468745" "00198" "00470463" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00344, 03912, 04270, 05315, 05521, 05611 ## Count = 35 "{{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}}" "0000037102" "00198" "00050490" "00006" "Isolated (sporadic)" "" "global developmental delay, generalized tonic-clonic seizures, focal seizures with impairment of consciousness or awareness, brachycephaly, micropenis, generalized hypotonia, generalized joint laxity" "" "" "" "" "" "" "" "" "" "" "" "0000037326" "00198" "00050714" "00006" "Isolated (sporadic)" "" "intellectual disability, generalized seizures, abnormal facial shape, upslanted palpebral fissure, gait ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000060493" "03912" "00080924" "01758" "Isolated (sporadic)" "" "Epileptic encephalopathy, childhood-onset (OMIM:615369)" "" "" "" "" "" "" "" "" "" "" "" "0000092316" "05315" "00117052" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092332" "05315" "00117069" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092351" "05315" "00117091" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000187141" "00198" "00248139" "01164" "Unknown" "" "HP:0002373 (Febrile seizures)" "" "" "" "" "" "" "" "" "" "" "" "0000203948" "00198" "00266172" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Absence seizures (HP:0002121)" "" "" "" "" "" "" "" "" "" "" "" "0000226750" "00198" "00299440" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Generalized tonic-clonic seizures (HP:0002069); Status epilepticus (HP:0002133); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000229865" "00139" "00302783" "00006" "Isolated (sporadic)" "5y" "severe intellectual disability; speech 80 words, 4y-no 2 words together; walk-18m; no epilepsy; no autistic features; acquired microcephaly; no macrocephaly; CT brain normal; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230060" "05521" "00302977" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230061" "05521" "00302978" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Childhood Onset; age onset childhood" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230178" "00344" "00303094" "00006" "Isolated (sporadic)" "17y" "seizures atonic (12m), febrile seizure, absence, myoclonic jerks-atonic, myoclonic jerks, tonic-clonic; EEG 3.8 Hz generalised spike wave; development prior to seizures mild delay, behavioral problems; moderate intellectual disability, autism spectrum disorder, no regression" "" "" "" "" "" "" "" "" "EEOC" "myoclonic atonic epilepsy" "" "0000230179" "00344" "00303095" "00006" "Isolated (sporadic)" "12y" "seizures myoclonic jerks (12m), non-convulsive status epilepticus, tonic, tonic-clonic, myocloninc absence; EEG generalised polyspike wave, multi-focal discharges, generalised paroxysmal fast activity, single spike wave; development prior to seizures normal; severe intellectual disability, regression" "" "" "" "" "" "" "" "" "EEOC" "epileptic encephalopathy" "" "0000230180" "00344" "00303096" "00006" "Isolated (sporadic)" "29y" "seizures atypical absence (12m), atonic, myoclonic jerks, non-convulsive status epilepticus, status epilepticus, tonic, tonic-clonic; EEG single spike wave, multi-focal discharges, diffuse slowing, generalised polyspike wave, PPR triggered myoclonic jerks; development prior to seizures delayed; severe intellectual disability, regression" "" "" "" "" "" "" "" "" "EEOC" "Lennox Gastaut syndrome" "" "0000230181" "00344" "00303097" "00006" "Isolated (sporadic)" "12y" "seizures atonic (2y) myoclonic jerks, status epilepticus, tonic-clonic; EEG diffuse slowing, generalised polyspike wave, 2.5 Hz generalised spike wave; development prior to seizures normal; severe intellectual disability, regression" "" "" "" "" "" "" "" "" "EEOC" "myoclonic atonic epilepsy" "" "0000230182" "00344" "00303098" "00006" "Isolated (sporadic)" "15y" "seizures tonic-clonic (3y) focal dyscognitive seizures, hemiclonic, myoclonic jerks; EEG generalised spike wave, multi-focal discharges, diffuse slowing; development prior to seizures delayed; moderate intellectual disability, regression" "" "" "" "" "" "" "" "" "EEOC" "epileptic encephalopathy" "" "0000230183" "00344" "00303099" "00006" "Isolated (sporadic)" "2y6m" "seizures focal dyscognitive seizures, myoclonic jerks (2.5y) myoclonic jerks-absence, tonic; EEG generalised spike wave, generalised polyspike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression" "" "" "" "" "" "" "" "" "EEOC" "epileptic encephalopathy" "" "0000231819" "04270" "00305973" "00006" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000231820" "04270" "00305974" "00006" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000233464" "00198" "00308038" "00006" "Isolated (sporadic)" "" "severe global developmental delay, hypo‧tonia, hearing and vision deficiencies" "" "" "" "" "" "" "" "" "EEOC" "developmental delay" "" "0000242188" "00198" "00320142" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Attention deficit hyperactivity disorder (HP:0007018); Thyroid agenesis (HP:0008191); Tall stature (HP:0000098); Macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "0000257407" "04270" "00334913" "00006" "Isolated (sporadic)" "" "Onset age 6 of frequent absence seizures, occasional TCS and myoclonus on background of developmental delay. Severe, progressive myoclonus, ataxia and cognitive decline from age 15. Abnormal eye movements and mild extrapyramidal signs noted. History of psychosis and autism. EEG: GSW and PPR." "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , developmental delay" "" "0000257441" "04270" "00362027" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy" "" "0000269455" "00198" "00374245" "00006" "Familial, autosomal dominant" "" "Delay in milestones and complex partial seizures" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269898" "00198" "00374688" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, intellectual disability" "" "0000318771" "04270" "00427797" "00006" "Isolated (sporadic)" "20y" "intellectual disability; febrile seizures, tonic, generalized tonic-clonic, frequency 5-6/d; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs" "6y" "" "" "" "" "" "" "" "" "Lennox-Gastaut syndrome" "" "0000325149" "00139" "00434903" "03544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328251" "04270" "00438347" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "8y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328260" "04270" "00438356" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "4m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000344356" "00198" "00455823" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DEE94" "neurogenetic diseases" "" "0000346413" "05611" "00457963" "00006" "Isolated (sporadic)" "07y" "see paper; ..., 37w-birth weight 3.4 kg (60th), length 47 cm (15th), OFC 35 cm (75th); 2y-weight 10.1 kg (17th), height 74.5 cm (<1st), OFC 44.8 cm (1st); facial dysmorphisms; EEG 1m-normal, 4y-epileptiform discharges (generalized polyspike-and-wave); EEG background slowing, 4y-rhythmic delta slowing; 15m-infantile spasms, myoclonic seizures; no photosensitive seizures, no generalized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m- first neurodevelopmental symptoms/delay; 7y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress" "" "" "" "" "" "" "" "" "NEDFSAB" "neurodevelopmental delay" "" "0000346490" "05611" "00458041" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0001513" "" "" "" "" "" "" "" "" "DEE94" "complex neurodevelopmental disorder" "" "0000351356" "05611" "00465962" "03544" "Isolated (sporadic)" "" "HP:0011481, HP:0002376, HP:0001249" "" "" "" "" "" "" "" "" "DEE94" "complex neurodevelopmental disorder" "" "0000353898" "00198" "00468745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050435" "00050490" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050659" "00050714" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081036" "00080924" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117279" "00116811" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117320" "00116852" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117462" "00116994" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117469" "00117001" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117527" "00117052" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117543" "00117069" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117562" "00117091" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000249244" "00248139" "1" "01164" "01164" "2019-07-19 11:43:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000267293" "00266172" "1" "01164" "01164" "2019-10-15 11:11:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000292516" "00291348" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300550" "00299440" "1" "01164" "01164" "2020-04-16 09:57:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000303909" "00302783" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304102" "00302977" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304103" "00302978" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304218" "00303094" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304219" "00303095" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304220" "00303096" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304221" "00303097" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304222" "00303098" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304223" "00303099" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000307103" "00305973" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000307104" "00305974" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000309182" "00308038" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321327" "00320142" "1" "01807" "01807" "2020-11-23 17:37:53" "" "" "SEQ" "DNA" "" "" "0000336143" "00334913" "1" "03286" "03286" "2021-03-02 13:04:30" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES trio" "" "0000363255" "00362027" "1" "00006" "00006" "2021-04-14 11:32:13" "" "" "SEQ-NG" "DNA" "" "WES" "0000375439" "00374245" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375882" "00374688" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393112" "00391871" "1" "02494" "02494" "2021-11-19 12:59:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000429120" "00427797" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000436376" "00434903" "1" "03544" "03544" "2023-04-13 14:08:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000439829" "00438347" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439838" "00438356" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457439" "00455823" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000459583" "00457963" "1" "00006" "00006" "2024-11-22 19:36:17" "" "" "PCR;SEQ" "DNA" "" "" "0000459659" "00458041" "1" "03544" "03544" "2024-11-26 10:32:18" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000467614" "00465962" "1" "03544" "03544" "2025-06-24 09:19:12" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000470413" "00468745" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472130" "00470463" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000050435" "CHD2" "0000050659" "CHD2" "0000081036" "CHD2" "0000303909" "CHD2" "0000304102" "CHD2" "0000304103" "CHD2" "0000304218" "CHD2" "0000304219" "CHD2" "0000304220" "CHD2" "0000304221" "CHD2" "0000304222" "CHD2" "0000304223" "CHD2" "0000307103" "CHD2" "0000307104" "CHD2" "0000309182" "CHD2" "0000375439" "CHD2" "0000375882" "CHD2" "0000459583" "CHASERR" "0000472130" "CHD2" ## 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 = 277 "{{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}}" "0000079415" "0" "90" "15" "93558032" "93558047" "del" "0" "00006" "CHD2_000001" "g.93558032_93558047del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.93014802_93014817del" "" "pathogenic" "" "0000079639" "0" "90" "15" "93499821" "93499821" "subst" "0" "00006" "CHD2_000002" "g.93499821C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.92956591C>T" "" "pathogenic" "" "0000130122" "0" "70" "15" "93510622" "93510622" "subst" "0" "01758" "CHD2_000003" "g.93510622C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.92967392C>T" "" "likely pathogenic" "ACMG" "0000188124" "0" "50" "15" "93563455" "93563455" "subst" "3.65619E-5" "02192" "CHD2_000009" "g.93563455G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs61759469" "0" "" "" "g.93020225G>A" "" "VUS" "" "0000188165" "0" "50" "15" "93563319" "93563319" "subst" "0.000121847" "02192" "CHD2_000008" "g.93563319C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs146275216" "0" "" "" "g.93020089C>T" "" "VUS" "" "0000188307" "0" "50" "15" "93563319" "93563319" "subst" "0.000121847" "02192" "CHD2_000008" "g.93563319C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs146275216" "0" "" "" "g.93020089C>T" "" "VUS" "" "0000188314" "0" "50" "15" "93563319" "93563319" "subst" "0.000121847" "02192" "CHD2_000008" "g.93563319C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs146275216" "0" "" "" "g.93020089C>T" "" "VUS" "" "0000188365" "0" "50" "15" "93543791" "93543791" "subst" "8.12625E-5" "02192" "CHD2_000005" "g.93543791C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.93000561C>T" "" "VUS" "" "0000188382" "0" "50" "15" "93467637" "93467637" "subst" "0" "02192" "CHD2_000004" "g.93467637G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.92924407G>A" "" "VUS" "" "0000188404" "0" "50" "15" "93558062" "93558062" "subst" "0" "02192" "CHD2_000007" "g.93558062C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.93014832C>T" "" "VUS" "" "0000188522" "0" "50" "15" "93552495" "93552495" "subst" "2.031E-5" "02192" "CHD2_000006" "g.93552495C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.93009265C>T" "" "VUS" "" "0000248201" "0" "10" "15" "93521604" "93521604" "subst" "0.843788" "02325" "CHD2_000064" "g.93521604A>G" "" "" "" "CHD2(NM_001271.4):c.2718A>G (p.Q906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92978374A>G" "" "benign" "" "0000248676" "0" "10" "15" "93510603" "93510603" "subst" "0.849123" "02325" "CHD2_000052" "g.93510603A>G" "" "" "" "CHD2(NM_001271.4):c.2049A>G (p.E683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92967373A>G" "" "benign" "" "0000250803" "0" "30" "15" "93482864" "93482864" "subst" "0.00335502" "02326" "CHD2_000024" "g.93482864A>G" "" "" "" "CHD2(NM_001271.3):c.608A>G (p.K203R, p.(Lys203Arg)), CHD2(NM_001271.4):c.608A>G (p.K203R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92939634A>G" "" "likely benign" "" "0000250904" "0" "10" "15" "93521604" "93521604" "subst" "0.843788" "02326" "CHD2_000064" "g.93521604A>G" "" "" "" "CHD2(NM_001271.4):c.2718A>G (p.Q906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92978374A>G" "" "benign" "" "0000251586" "0" "10" "15" "93536328" "93536328" "subst" "0" "02326" "CHD2_000077" "g.93536328A>G" "" "" "" "CHD2(NM_001271.4):c.3595+100A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92993098A>G" "" "benign" "" "0000251587" "0" "10" "15" "93563640" "93563640" "subst" "0" "02326" "CHD2_000115" "g.93563640A>T" "" "" "" "CHD2(NM_001271.4):c.5153+152A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020410A>T" "" "benign" "" "0000251946" "0" "30" "15" "93487683" "93487683" "subst" "0.000248064" "02326" "CHD2_000035" "g.93487683A>G" "" "" "" "CHD2(NM_001271.4):c.1091A>G (p.N364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92944453A>G" "" "likely benign" "" "0000252249" "0" "30" "15" "93448063" "93448063" "subst" "0" "02326" "CHD2_000011" "g.93448063A>G" "" "" "" "CHD2(NM_001271.4):c.62+3534A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92904833A>G" "" "likely benign" "" "0000252250" "0" "30" "15" "93448201" "93448201" "subst" "0.000154159" "02326" "CHD2_000013" "g.93448201A>G" "" "" "" "CHD2(NM_001271.4):c.62+3672A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92904971A>G" "" "likely benign" "" "0000252251" "0" "30" "15" "93470320" "93470320" "subst" "0" "02326" "CHD2_000016" "g.93470320A>T" "" "" "" "CHD2(NM_001271.4):c.295-154A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92927090A>T" "" "likely benign" "" "0000252252" "0" "30" "15" "93480744" "93480744" "subst" "4.38924E-6" "02326" "CHD2_000022" "g.93480744A>C" "" "" "" "CHD2(NM_001271.4):c.444-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92937514A>C" "" "likely benign" "" "0000252253" "0" "30" "15" "93485212" "93485212" "subst" "0" "02326" "CHD2_000027" "g.93485212A>T" "" "" "" "CHD2(NM_001271.4):c.826+27A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92941982A>T" "" "likely benign" "" "0000252254" "0" "30" "15" "93487549" "93487549" "subst" "0" "02326" "CHD2_000033" "g.93487549A>G" "" "" "" "CHD2(NM_001271.4):c.1053-96A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92944319A>G" "" "likely benign" "" "0000252255" "0" "30" "15" "93489248" "93489248" "subst" "1.44981E-5" "02326" "CHD2_000041" "g.93489248A>T" "" "" "" "CHD2(NM_001271.4):c.1199-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92946018A>T" "" "likely benign" "" "0000252256" "0" "30" "15" "93489597" "93489597" "subst" "0" "02326" "CHD2_000043" "g.93489597A>T" "" "" "" "CHD2(NM_001271.4):c.1377+151A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92946367A>T" "" "likely benign" "" "0000252257" "0" "30" "15" "93492451" "93492451" "subst" "0" "02326" "CHD2_000046" "g.93492451A>G" "" "" "" "CHD2(NM_001271.4):c.1502+145A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92949221A>G" "" "likely benign" "" "0000252258" "0" "30" "15" "93492462" "93492462" "subst" "0" "02326" "CHD2_000047" "g.93492462A>G" "" "" "" "CHD2(NM_001271.4):c.1502+156A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92949232A>G" "" "likely benign" "" "0000252259" "0" "30" "15" "93499531" "93499531" "subst" "0" "02326" "CHD2_000049" "g.93499531A>G" "" "" "" "CHD2(NM_001271.4):c.1810-158A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92956301A>G" "" "likely benign" "" "0000252260" "0" "30" "15" "93499903" "93499903" "subst" "0.00211843" "02326" "CHD2_000050" "g.93499903A>G" "" "" "" "CHD2(NM_001271.4):c.2000+24A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92956673A>G" "" "likely benign" "" "0000252261" "0" "30" "15" "93514906" "93514906" "subst" "0" "02326" "CHD2_000054" "g.93514906A>T" "" "" "" "CHD2(NM_001271.4):c.2190-89A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92971676A>T" "" "likely benign" "" "0000252262" "0" "30" "15" "93515485" "93515485" "subst" "0.00170957" "02326" "CHD2_000057" "g.93515485A>G" "" "" "" "CHD2(NM_001271.4):c.2353-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92972255A>G" "" "likely benign" "" "0000252263" "0" "30" "15" "93518063" "93518063" "subst" "0.000261613" "02326" "CHD2_000058" "g.93518063A>G" "" "" "" "CHD2(NM_001271.4):c.2506-46A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92974833A>G" "" "likely benign" "" "0000252264" "0" "30" "15" "93518272" "93518272" "subst" "0" "02326" "CHD2_000061" "g.93518272A>C" "" "" "" "CHD2(NM_001271.4):c.2577+92A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92975042A>C" "" "likely benign" "" "0000252265" "0" "30" "15" "93521659" "93521659" "del" "0.0114483" "02326" "CHD2_000065" "g.93521659del" "" "" "" "CHD2(NM_001271.4):c.2727+46delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92978429del" "" "likely benign" "" "0000252266" "0" "30" "15" "93527880" "93527880" "subst" "0" "02326" "CHD2_000072" "g.93527880A>G" "" "" "" "CHD2(NM_001271.4):c.3237+150A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92984650A>G" "" "likely benign" "" "0000252267" "0" "30" "15" "93540768" "93540768" "subst" "0" "02326" "CHD2_000081" "g.93540768A>G" "" "" "" "CHD2(NM_001271.4):c.3885+135A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92997538A>G" "" "likely benign" "" "0000252268" "0" "30" "15" "93543907" "93543907" "subst" "0.00647135" "02326" "CHD2_000087" "g.93543907A>G" "" "" "" "CHD2(NM_001271.4):c.4137+37A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93000677A>G" "" "likely benign" "" "0000252269" "0" "30" "15" "93545574" "93545574" "subst" "0.0141771" "02326" "CHD2_000092" "g.93545574A>G" "" "" "" "CHD2(NM_001271.4):c.4278+27A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93002344A>G" "" "likely benign" "" "0000252270" "0" "30" "15" "93545599" "93545599" "subst" "0" "02326" "CHD2_000093" "g.93545599A>G" "" "" "" "CHD2(NM_001271.4):c.4278+52A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93002369A>G" "" "likely benign" "" "0000252271" "0" "30" "15" "93552278" "93552278" "del" "0" "02326" "CHD2_000095" "g.93552278del" "" "" "" "CHD2(NM_001271.4):c.4414-97delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93009048del" "" "likely benign" "" "0000252272" "0" "30" "15" "93555541" "93555541" "subst" "0.00758555" "02326" "CHD2_000098" "g.93555541A>G" "" "" "" "CHD2(NM_001271.4):c.4593-34A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93012311A>G" "" "likely benign" "" "0000252273" "0" "30" "15" "93558180" "93558180" "subst" "0.00175679" "02326" "CHD2_000102" "g.93558180A>G" "" "" "" "CHD2(NM_001271.4):c.4906+41A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93014950A>G" "" "likely benign" "" "0000252274" "0" "30" "15" "93563177" "93563177" "del" "0" "02326" "CHD2_000107" "g.93563177del" "" "" "" "CHD2(NM_001271.4):c.4907-65delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93019947del" "" "likely benign" "" "0000254022" "0" "30" "15" "93482864" "93482864" "subst" "0.00335502" "01943" "CHD2_000024" "g.93482864A>G" "" "" "" "CHD2(NM_001271.3):c.608A>G (p.K203R, p.(Lys203Arg)), CHD2(NM_001271.4):c.608A>G (p.K203R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92939634A>G" "" "likely benign" "" "0000255081" "0" "30" "15" "93486206" "93486206" "subst" "0.000710977" "01943" "CHD2_000031" "g.93486206A>T" "" "" "" "CHD2(NM_001271.3):c.960A>T (p.T320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92942976A>T" "" "likely benign" "" "0000256717" "0" "50" "15" "93515164" "93515164" "subst" "0" "01943" "CHD2_000056" "g.93515164A>G" "" "" "" "CHD2(NM_001271.3):c.2352+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92971934A>G" "" "VUS" "" "0000266758" "0" "30" "15" "93518187" "93518187" "subst" "0.00358204" "02325" "CHD2_000060" "g.93518187T>C" "" "" "" "CHD2(NM_001271.3):c.2577+7T>C, CHD2(NM_001271.4):c.2577+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92974957T>C" "" "likely benign" "" "0000268108" "0" "50" "15" "93518140" "93518140" "subst" "0" "02329" "CHD2_000059" "g.93518140G>A" "" "" "" "CHD2(NM_001271.4):c.2537G>A (p.R846Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92974910G>A" "" "VUS" "" "0000270078" "0" "30" "15" "93444293" "93444293" "subst" "0" "02326" "CHD2_000010" "g.93444293T>G" "" "" "" "CHD2(NM_001271.4):c.-71-104T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92901063T>G" "" "likely benign" "" "0000270079" "0" "30" "15" "93568008" "93568008" "subst" "0" "02326" "CHD2_000116" "g.93568008G>A" "" "" "" "CHD2(NM_001271.4):c.*73G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93024778G>A" "" "likely benign" "" "0000270080" "0" "30" "15" "93487599" "93487599" "subst" "0.0014829" "02326" "CHD2_000034" "g.93487599C>T" "" "" "" "CHD2(NM_001271.4):c.1053-46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92944369C>T" "" "likely benign" "" "0000270081" "0" "30" "15" "93487908" "93487908" "subst" "0" "02326" "CHD2_000036" "g.93487908G>A" "" "" "" "CHD2(NM_001271.4):c.1153+163G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92944678G>A" "" "likely benign" "" "0000270082" "0" "30" "15" "93488941" "93488941" "subst" "0" "02326" "CHD2_000040" "g.93488941T>C" "" "" "" "CHD2(NM_001271.4):c.1154-110T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92945711T>C" "" "likely benign" "" "0000270083" "0" "30" "15" "93488938" "93488938" "del" "0" "02326" "CHD2_000039" "g.93488938del" "" "" "" "CHD2(NM_001271.4):c.1154-113delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92945708del" "" "likely benign" "" "0000270085" "0" "30" "15" "93488854" "93488854" "subst" "0" "02326" "CHD2_000037" "g.93488854C>T" "" "" "" "CHD2(NM_001271.4):c.1154-197C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92945624C>T" "" "likely benign" "" "0000270086" "0" "30" "15" "93489343" "93489343" "subst" "0" "02326" "CHD2_000042" "g.93489343G>C" "" "" "" "CHD2(NM_001271.3):c.1274G>C (p.(Cys425Ser)), CHD2(NM_001271.4):c.1274G>C (p.C425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92946113G>C" "" "likely benign" "" "0000270087" "0" "30" "15" "93492177" "93492177" "subst" "0" "02326" "CHD2_000045" "g.93492177T>C" "" "" "" "CHD2(NM_001271.4):c.1378-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92948947T>C" "" "likely benign" "" "0000270088" "0" "30" "15" "93492086" "93492086" "subst" "0" "02326" "CHD2_000044" "g.93492086T>G" "" "" "" "CHD2(NM_001271.4):c.1378-96T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92948856T>G" "" "likely benign" "" "0000270089" "0" "30" "15" "93496919" "93496919" "subst" "0" "02326" "CHD2_000048" "g.93496919C>T" "" "" "" "CHD2(NM_001271.4):c.1719+116C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92953689C>T" "" "likely benign" "" "0000270090" "0" "30" "15" "93467668" "93467668" "subst" "3.24939E-5" "02326" "CHD2_000014" "g.93467668T>G" "" "" "" "CHD2(NM_001271.4):c.180T>G (p.S60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92924438T>G" "" "likely benign" "" "0000270091" "0" "30" "15" "93499996" "93499996" "subst" "0" "02326" "CHD2_000051" "g.93499996G>A" "" "" "" "CHD2(NM_001271.4):c.2000+117G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92956766G>A" "" "likely benign" "" "0000270092" "0" "30" "15" "93510811" "93510811" "subst" "0" "02326" "CHD2_000053" "g.93510811T>C" "" "" "" "CHD2(NM_001271.4):c.2189+68T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92967581T>C" "" "likely benign" "" "0000270093" "0" "30" "15" "93514936" "93514936" "subst" "0" "02326" "CHD2_000055" "g.93514936G>T" "" "" "" "CHD2(NM_001271.4):c.2190-59G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92971706G>T" "" "likely benign" "" "0000270094" "0" "30" "15" "93467727" "93467727" "subst" "0.000166539" "02326" "CHD2_000015" "g.93467727C>T" "" "" "" "CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92924497C>T" "" "likely benign" "" "0000270095" "0" "30" "15" "93518187" "93518187" "subst" "0.00358204" "02326" "CHD2_000060" "g.93518187T>C" "" "" "" "CHD2(NM_001271.3):c.2577+7T>C, CHD2(NM_001271.4):c.2577+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92974957T>C" "" "likely benign" "" "0000270096" "0" "30" "15" "93521331" "93521331" "subst" "0" "02326" "CHD2_000062" "g.93521331C>T" "" "" "" "CHD2(NM_001271.4):c.2578-133C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92978101C>T" "" "likely benign" "" "0000270097" "0" "70" "15" "93521584" "93521584" "subst" "0" "02326" "CHD2_000063" "g.93521584C>T" "" "" "" "CHD2(NM_001271.4):c.2698C>T (p.R900*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92978354C>T" "" "likely pathogenic" "" "0000270098" "0" "30" "15" "93523912" "93523912" "subst" "0" "02326" "CHD2_000066" "g.93523912G>A" "" "" "" "CHD2(NM_001271.4):c.2877-133G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92980682G>A" "" "likely benign" "" "0000270099" "0" "30" "15" "93523998" "93523998" "subst" "0.0109447" "02326" "CHD2_000067" "g.93523998T>G" "" "" "" "CHD2(NM_001271.4):c.2877-47T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92980768T>G" "" "likely benign" "" "0000270100" "0" "30" "15" "93470454" "93470454" "subst" "0.000160623" "02326" "CHD2_000017" "g.93470454G>A" "" "" "" "CHD2(NM_001271.4):c.295-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92927224G>A" "" "likely benign" "" "0000270101" "0" "10" "15" "93524202" "93524202" "subst" "0" "02326" "CHD2_000068" "g.93524202T>C" "" "" "" "CHD2(NM_001271.4):c.2973+61T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92980972T>C" "" "benign" "" "0000270102" "0" "30" "15" "93524539" "93524539" "subst" "0" "02326" "CHD2_000069" "g.93524539T>C" "" "" "" "CHD2(NM_001271.4):c.2974-56T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92981309T>C" "" "likely benign" "" "0000270103" "0" "30" "15" "93524841" "93524841" "subst" "0" "02326" "CHD2_000070" "g.93524841G>A" "" "" "" "CHD2(NM_001271.4):c.3066+154G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92981611G>A" "" "likely benign" "" "0000270104" "0" "30" "15" "93527809" "93527809" "subst" "0" "02326" "CHD2_000071" "g.93527809G>A" "" "" "" "CHD2(NM_001271.4):c.3237+79G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92984579G>A" "" "likely benign" "" "0000270105" "0" "30" "15" "93528945" "93528945" "subst" "0.000693004" "02326" "CHD2_000073" "g.93528945C>T" "" "" "" "CHD2(NM_001271.4):c.3413+42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92985715C>T" "" "likely benign" "" "0000270106" "0" "30" "15" "93533021" "93533021" "subst" "0" "02326" "CHD2_000074" "g.93533021C>T" "" "" "" "CHD2(NM_001271.4):c.3414-1685C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92989791C>T" "" "likely benign" "" "0000270107" "0" "30" "15" "93534766" "93534766" "subst" "0.000348483" "02326" "CHD2_000075" "g.93534766T>C" "" "" "" "CHD2(NM_001271.4):c.3455+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92991536T>C" "" "likely benign" "" "0000270108" "0" "30" "15" "93536314" "93536314" "subst" "0" "02326" "CHD2_000076" "g.93536314C>A" "" "" "" "CHD2(NM_001271.4):c.3595+86C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92993084C>A" "" "likely benign" "" "0000270109" "0" "30" "15" "93472081" "93472081" "subst" "0" "02326" "CHD2_000019" "g.93472081T>C" "" "" "" "CHD2(NM_001271.4):c.382-179T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92928851T>C" "" "likely benign" "" "0000270110" "0" "70" "15" "93540592" "93540592" "subst" "0" "02326" "CHD2_000079" "g.93540592G>T" "" "" "" "CHD2(NM_001271.4):c.3844G>T (p.E1282*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92997362G>T" "" "likely pathogenic" "" "0000270111" "0" "30" "15" "93540756" "93540756" "subst" "0" "02326" "CHD2_000080" "g.93540756G>A" "" "" "" "CHD2(NM_001271.4):c.3885+123G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92997526G>A" "" "likely benign" "" "0000270112" "0" "30" "15" "93541999" "93541999" "subst" "0" "02326" "CHD2_000085" "g.93541999G>C" "" "" "" "CHD2(NM_001271.4):c.4008+148G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92998769G>C" "" "likely benign" "" "0000270113" "0" "30" "15" "93541927" "93541927" "subst" "0" "02326" "CHD2_000083" "g.93541927G>A" "" "" "" "CHD2(NM_001271.4):c.4008+76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92998697G>A" "" "likely benign" "" "0000270114" "0" "10" "15" "93541934" "93541934" "subst" "0" "02326" "CHD2_000084" "g.93541934C>T" "" "" "" "CHD2(NM_001271.4):c.4008+83C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92998704C>T" "" "benign" "" "0000270115" "0" "30" "15" "93541860" "93541860" "subst" "2.44736E-5" "02326" "CHD2_000082" "g.93541860G>A" "" "" "" "CHD2(NM_001271.4):c.4008+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92998630G>A" "" "likely benign" "" "0000270116" "0" "30" "15" "93545392" "93545392" "subst" "0.00353496" "02326" "CHD2_000089" "g.93545392T>G" "" "" "" "CHD2(NM_001271.4):c.4138-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93002162T>G" "" "likely benign" "" "0000270117" "0" "30" "15" "93545401" "93545401" "subst" "0.000902254" "02326" "CHD2_000090" "g.93545401T>C" "" "" "" "CHD2(NM_001271.4):c.4138-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93002171T>C" "" "likely benign" "" "0000270118" "0" "30" "15" "93545335" "93545335" "subst" "0" "02326" "CHD2_000088" "g.93545335T>G" "" "" "" "CHD2(NM_001271.4):c.4138-72T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93002105T>G" "" "likely benign" "" "0000270119" "0" "30" "15" "93552229" "93552229" "subst" "0" "02326" "CHD2_000094" "g.93552229C>A" "" "" "" "CHD2(NM_001271.4):c.4414-146C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93008999C>A" "" "likely benign" "" "0000270120" "0" "10" "15" "93552349" "93552349" "subst" "0.0246331" "02326" "CHD2_000096" "g.93552349G>A" "" "" "" "CHD2(NM_001271.4):c.4414-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93009119G>A" "" "benign" "" "0000270121" "0" "30" "15" "93472544" "93472544" "subst" "0" "02326" "CHD2_000020" "g.93472544T>G" "" "" "" "CHD2(NM_001271.4):c.443+223T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92929314T>G" "" "likely benign" "" "0000270123" "0" "30" "15" "93555371" "93555371" "subst" "0" "02326" "CHD2_000097" "g.93555371C>G" "" "" "" "CHD2(NM_001271.4):c.4593-204C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93012141C>G" "" "likely benign" "" "0000270124" "0" "30" "15" "93555873" "93555873" "subst" "0" "02326" "CHD2_000099" "g.93555873T>A" "" "" "" "CHD2(NM_001271.4):c.4692+199T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93012643T>A" "" "likely benign" "" "0000270125" "0" "30" "15" "93557815" "93557815" "subst" "0" "02326" "CHD2_000100" "g.93557815C>T" "" "" "" "CHD2(NM_001271.4):c.4693-111C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93014585C>T" "" "likely benign" "" "0000270126" "0" "10" "15" "93557954" "93557954" "subst" "0.0207939" "02326" "CHD2_000101" "g.93557954G>C" "" "" "" "CHD2(NM_001271.4):c.4721G>C (p.G1574A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93014724G>C" "" "benign" "" "0000270127" "0" "30" "15" "93558309" "93558309" "subst" "0" "02326" "CHD2_000103" "g.93558309T>A" "" "" "" "CHD2(NM_001271.4):c.4906+170T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93015079T>A" "" "likely benign" "" "0000270128" "0" "30" "15" "93563177" "93563177" "dup" "0" "02326" "CHD2_000105" "g.93563177dup" "" "" "" "CHD2(NM_001271.4):c.4907-65dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93019947dup" "" "likely benign" "" "0000270129" "0" "30" "15" "93563176" "93563177" "dup" "0" "02326" "CHD2_000106" "g.93563176_93563177dup" "" "" "" "CHD2(NM_001271.4):c.4907-65_4907-64dupAA, CHD2(NM_001271.4):c.4907-67_4907-66dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93019946_93019947dup" "" "likely benign" "" "0000270131" "0" "90" "15" "93563370" "93563370" "subst" "0" "02326" "CHD2_000109" "g.93563370C>T" "" "" "" "CHD2(NM_001271.4):c.5035C>T (p.R1679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020140C>T" "" "pathogenic" "" "0000270132" "0" "30" "15" "93563371" "93563371" "subst" "1.21831E-5" "02326" "CHD2_000110" "g.93563371G>A" "" "" "" "CHD2(NM_001271.4):c.5036G>A (p.R1679Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020141G>A" "" "likely benign" "" "0000270133" "0" "30" "15" "93563463" "93563463" "subst" "1.62497E-5" "02326" "CHD2_000112" "g.93563463C>T" "" "" "" "CHD2(NM_001271.4):c.5128C>T (p.R1710W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020233C>T" "" "likely benign" "" "0000270134" "0" "10" "15" "93563612" "93563612" "subst" "0" "02326" "CHD2_000114" "g.93563612C>G" "" "" "" "CHD2(NM_001271.4):c.5153+124C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020382C>G" "" "benign" "" "0000270135" "0" "30" "15" "93563558" "93563558" "subst" "0" "02326" "CHD2_000113" "g.93563558T>C" "" "" "" "CHD2(NM_001271.4):c.5153+70T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020328T>C" "" "likely benign" "" "0000270136" "0" "30" "15" "93480971" "93480971" "subst" "0" "02326" "CHD2_000023" "g.93480971C>A" "" "" "" "CHD2(NM_001271.4):c.551+116C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92937741C>A" "" "likely benign" "" "0000270137" "0" "30" "15" "93448173" "93448173" "subst" "0.000909525" "02326" "CHD2_000012" "g.93448173G>C" "" "" "" "CHD2(NM_001271.4):c.62+3644G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92904943G>C" "" "likely benign" "" "0000270138" "0" "30" "15" "93483064" "93483064" "subst" "0" "02326" "CHD2_000025" "g.93483064C>G" "" "" "" "CHD2(NM_001271.4):c.692+116C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92939834C>G" "" "likely benign" "" "0000270139" "0" "10" "15" "93484930" "93484930" "subst" "0" "02326" "CHD2_000026" "g.93484930C>G" "" "" "" "CHD2(NM_001271.4):c.693-122C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92941700C>G" "" "benign" "" "0000270140" "0" "30" "15" "93485300" "93485300" "subst" "0" "02326" "CHD2_000028" "g.93485300T>C" "" "" "" "CHD2(NM_001271.4):c.826+115T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92942070T>C" "" "likely benign" "" "0000270141" "0" "30" "15" "93485927" "93485927" "subst" "0" "02326" "CHD2_000030" "g.93485927G>C" "" "" "" "CHD2(NM_001271.4):c.827-146G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92942697G>C" "" "likely benign" "" "0000273440" "0" "30" "15" "93486284" "93486284" "subst" "4.07671E-5" "01943" "CHD2_000032" "g.93486284C>T" "" "" "" "CHD2(NM_001271.3):c.1038C>T (p.D346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92943054C>T" "" "likely benign" "" "0000273441" "0" "50" "15" "93543811" "93543811" "subst" "5.28108E-5" "01943" "CHD2_000086" "g.93543811G>A" "" "" "" "CHD2(NM_001271.3):c.4078G>A (p.G1360R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93000581G>A" "" "VUS" "" "0000273443" "0" "70" "15" "93563258" "93563274" "del" "0" "01943" "CHD2_000108" "g.93563258_93563274del" "" "" "" "CHD2(NM_001271.3):c.4923_4939delGAGGGAAAGAAAGTTCA (p.R1642Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020028_93020044del" "" "likely pathogenic" "" "0000273444" "0" "30" "15" "93563384" "93563384" "subst" "0.00132794" "01943" "CHD2_000111" "g.93563384C>T" "" "" "" "CHD2(NM_001271.3):c.5049C>T (p.A1683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93020154C>T" "" "likely benign" "" "0000324326" "0" "50" "15" "93470519" "93470519" "subst" "0" "01804" "CHD2_000018" "g.93470519C>T" "" "" "" "CHD2(NM_001271.3):c.340C>T (p.(Arg114Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92927289C>T" "" "VUS" "" "0000338985" "0" "70" "15" "93487746" "93487746" "subst" "0" "02327" "CHD2_000119" "g.93487746G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92944516G>A" "" "likely pathogenic" "" "0000341186" "0" "50" "15" "93552516" "93552516" "subst" "0" "02327" "CHD2_000125" "g.93552516G>A" "" "" "" "CHD2(NM_001271.4):c.4555G>A (p.A1519T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93009286G>A" "" "VUS" "" "0000343382" "0" "90" "15" "93515552" "93515552" "subst" "0" "02327" "CHD2_000122" "g.93515552C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92972322C>T" "" "pathogenic" "" "0000344790" "0" "90" "15" "93467594" "93467594" "subst" "0" "02327" "CHD2_000117" "g.93467594C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92924364C>T" "" "pathogenic" "" "0000347095" "0" "50" "15" "93486168" "93486168" "subst" "0" "02327" "CHD2_000118" "g.93486168C>T" "" "" "" "CHD2(NM_001271.3):c.922C>T (p.(Leu308Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92942938C>T" "" "VUS" "" "0000347913" "0" "50" "15" "93522434" "93522434" "subst" "0" "02327" "CHD2_000123" "g.93522434A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92979204A>G" "" "VUS" "" "0000350584" "0" "50" "15" "93496702" "93496702" "subst" "4.06124E-6" "02327" "CHD2_000120" "g.93496702G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92953472G>A" "" "VUS" "" "0000556271" "0" "50" "15" "93467727" "93467727" "subst" "0.000166539" "01943" "CHD2_000015" "g.93467727C>T" "" "" "" "CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92924497C>T" "" "VUS" "" "0000556272" "0" "10" "15" "93480511" "93480511" "dup" "0" "02326" "CHD2_000126" "g.93480511dup" "" "" "" "CHD2(NM_001271.4):c.444-237dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92937281dup" "" "benign" "" "0000556273" "0" "50" "15" "93482824" "93482824" "subst" "1.22006E-5" "02325" "CHD2_000127" "g.93482824C>T" "" "" "" "CHD2(NM_001271.4):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92939594C>T" "" "VUS" "" "0000556275" "0" "30" "15" "93484927" "93484927" "subst" "0" "02326" "CHD2_000128" "g.93484927G>T" "" "" "" "CHD2(NM_001271.4):c.693-125G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92941697G>T" "" "likely benign" "" "0000556276" "0" "30" "15" "93485032" "93485032" "subst" "0.0174264" "02326" "CHD2_000129" "g.93485032C>T" "" "" "" "CHD2(NM_001271.4):c.693-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92941802C>T" "" "likely benign" "" "0000556277" "0" "10" "15" "93485880" "93485880" "dup" "0" "02326" "CHD2_000130" "g.93485880dup" "" "" "" "CHD2(NM_001271.4):c.827-193dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92942650dup" "" "benign" "" "0000556279" "0" "50" "15" "93489295" "93489295" "subst" "0" "01804" "CHD2_000132" "g.93489295A>G" "" "" "" "CHD2(NM_001042572.2):c.1226A>G (p.(Asn409Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92946065A>G" "" "VUS" "" "0000556280" "0" "90" "15" "93496726" "93496726" "subst" "0" "02327" "CHD2_000133" "g.93496726T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92953496T>C" "" "pathogenic" "" "0000556282" "0" "90" "15" "93515091" "93515091" "subst" "0" "02329" "CHD2_000135" "g.93515091C>A" "" "" "" "CHD2(NM_001271.4):c.2286C>A (p.C762*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92971861C>A" "" "pathogenic" "" "0000556283" "0" "50" "15" "93515621" "93515621" "subst" "0" "02327" "CHD2_000136" "g.93515621C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92972391C>G" "" "VUS" "" "0000556284" "0" "30" "15" "93515686" "93515686" "subst" "0.0148335" "02326" "CHD2_000137" "g.93515686C>G" "" "" "" "CHD2(NM_001271.4):c.2505+39C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92972456C>G" "" "likely benign" "" "0000556285" "0" "30" "15" "93518187" "93518187" "subst" "0.00358204" "01943" "CHD2_000060" "g.93518187T>C" "" "" "" "CHD2(NM_001271.3):c.2577+7T>C, CHD2(NM_001271.4):c.2577+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92974957T>C" "" "likely benign" "" "0000556286" "0" "70" "15" "93521556" "93521556" "subst" "0" "02329" "CHD2_000138" "g.93521556C>G" "" "" "" "CHD2(NM_001271.4):c.2670C>G (p.N890K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92978326C>G" "" "likely pathogenic" "" "0000556287" "0" "50" "15" "93522377" "93522377" "subst" "0" "01943" "CHD2_000139" "g.93522377C>T" "" "" "" "CHD2(NM_001271.3):c.2740C>T (p.R914C), CHD2(NM_001271.4):c.2740C>T (p.R914C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92979147C>T" "" "VUS" "" "0000556288" "0" "90" "15" "93522377" "93522377" "subst" "0" "02326" "CHD2_000139" "g.93522377C>T" "" "" "" "CHD2(NM_001271.3):c.2740C>T (p.R914C), CHD2(NM_001271.4):c.2740C>T (p.R914C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92979147C>T" "" "pathogenic" "" "0000556289" "0" "50" "15" "93522447" "93522447" "subst" "0" "02327" "CHD2_000140" "g.93522447A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92979217A>G" "" "VUS" "" "0000556290" "0" "50" "15" "93527670" "93527670" "subst" "0" "02327" "CHD2_000142" "g.93527670G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92984440G>C" "" "VUS" "" "0000556291" "0" "50" "15" "93527730" "93527730" "subst" "0" "02327" "CHD2_000143" "g.93527730G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92984500G>C" "" "VUS" "" "0000556292" "0" "70" "15" "93528860" "93528860" "subst" "0" "02329" "CHD2_000144" "g.93528860C>T" "" "" "" "CHD2(NM_001271.4):c.3370C>T (p.R1124W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92985630C>T" "" "likely pathogenic" "" "0000556293" "0" "30" "15" "93528950" "93528950" "subst" "0.000276403" "02326" "CHD2_000145" "g.93528950T>C" "" "" "" "CHD2(NM_001271.4):c.3413+47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92985720T>C" "" "likely benign" "" "0000556294" "0" "30" "15" "93536164" "93536164" "subst" "0" "02327" "CHD2_000146" "g.93536164C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92992934C>G" "" "likely benign" "" "0000556295" "0" "10" "15" "93536197" "93536197" "subst" "0.22472" "02327" "CHD2_000147" "g.93536197C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92992967C>T" "" "benign" "" "0000556296" "0" "30" "15" "93536206" "93536206" "subst" "0.000689076" "01943" "CHD2_000148" "g.93536206G>A" "" "" "" "CHD2(NM_001271.3):c.3573G>A (p.Q1191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92992976G>A" "" "likely benign" "" "0000556297" "0" "90" "15" "93540530" "93540530" "subst" "0" "02325" "CHD2_000149" "g.93540530G>T" "" "" "" "CHD2(NM_001271.4):c.3782G>T (p.W1261L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92997300G>T" "" "pathogenic" "" "0000556298" "0" "90" "15" "93540535" "93540535" "del" "0" "02329" "CHD2_000150" "g.93540535del" "" "" "" "CHD2(NM_001271.4):c.3787delG (p.V1263Wfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92997305del" "" "pathogenic" "" "0000556299" "0" "30" "15" "93543755" "93543755" "subst" "0" "02327" "CHD2_000151" "g.93543755A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93000525A>C" "" "likely benign" "" "0000556300" "0" "10" "15" "93545488" "93545488" "subst" "0.014597" "02326" "CHD2_000152" "g.93545488T>A" "" "" "" "CHD2(NM_001271.4):c.4219T>A (p.S1407T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93002258T>A" "" "benign" "" "0000556301" "0" "30" "15" "93545554" "93545556" "dup" "0" "01943" "CHD2_000153" "g.93545554_93545556dup" "" "" "" "CHD2(NM_001271.3):c.4278+7_4278+9dupATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93002324_93002326dup" "" "likely benign" "" "0000556302" "0" "90" "15" "93547886" "93547886" "subst" "0" "02327" "CHD2_000154" "g.93547886C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93004656C>T" "" "pathogenic" "" "0000556303" "0" "10" "15" "93547996" "93547996" "subst" "0.00442818" "02326" "CHD2_000155" "g.93547996C>T" "" "" "" "CHD2(NM_001271.4):c.4413+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93004766C>T" "" "benign" "" "0000556304" "0" "30" "15" "93552503" "93552503" "subst" "2.84347E-5" "02325" "CHD2_000156" "g.93552503C>T" "" "" "" "CHD2(NM_001271.4):c.4542C>T (p.A1514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93009273C>T" "" "likely benign" "" "0000556305" "0" "30" "15" "93557792" "93557792" "subst" "0" "02326" "CHD2_000157" "g.93557792T>G" "" "" "" "CHD2(NM_001271.4):c.4693-134T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93014562T>G" "" "likely benign" "" "0000556306" "0" "30" "15" "93557793" "93557793" "subst" "0" "02326" "CHD2_000158" "g.93557793T>G" "" "" "" "CHD2(NM_001271.4):c.4693-133T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93014563T>G" "" "likely benign" "" "0000556307" "0" "30" "15" "93563288" "93563288" "subst" "0.000174795" "01943" "CHD2_000159" "g.93563288C>T" "" "" "" "CHD2(NM_001271.3):c.4953C>T (p.G1651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93020058C>T" "" "likely benign" "" "0000556308" "0" "50" "15" "93563385" "93563385" "subst" "0.000117773" "01943" "CHD2_000160" "g.93563385C>T" "" "" "" "CHD2(NM_001271.3):c.5050C>T (p.H1684Y), CHD2(NM_001271.4):c.5050C>T (p.H1684Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93020155C>T" "" "VUS" "" "0000556309" "0" "30" "15" "93563385" "93563385" "subst" "0.000117773" "02326" "CHD2_000160" "g.93563385C>T" "" "" "" "CHD2(NM_001271.3):c.5050C>T (p.H1684Y), CHD2(NM_001271.4):c.5050C>T (p.H1684Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93020155C>T" "" "likely benign" "" "0000556311" "0" "30" "15" "93567816" "93567816" "subst" "0" "02327" "CHD2_000161" "g.93567816C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93024586C>T" "" "likely benign" "" "0000577970" "0" "50" "15" "93527606" "93527606" "subst" "0" "01164" "CHD2_000141" "g.93527606G>C" "" "" "" "" "ACMG grading: PP3,PM3" "Germline" "" "" "0" "" "" "g.92984376G>C" "" "VUS" "ACMG" "0000598347" "0" "70" "15" "93524142" "93524142" "subst" "0" "01164" "CHD2_000162" "g.93524142G>A" "" "" "" "" "ACMG grading: PM2, PVS1" "Germline" "" "" "0" "" "" "g.92980912G>A" "" "likely pathogenic" "ACMG" "0000615653" "0" "50" "15" "93472260" "93472260" "del" "0" "01943" "CHD2_000163" "g.93472260del" "" "" "" "CHD2(NM_001271.3):c.382-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92929030del" "" "VUS" "" "0000615654" "0" "30" "15" "93489284" "93489284" "subst" "0.000102297" "02326" "CHD2_000164" "g.93489284G>A" "" "" "" "CHD2(NM_001271.4):c.1215G>A (p.P405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92946054G>A" "" "likely benign" "" "0000615655" "0" "50" "15" "93540199" "93540199" "subst" "0" "02327" "CHD2_000166" "g.93540199G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92996969G>A" "" "VUS" "" "0000615657" "0" "90" "15" "93543813" "93543813" "subst" "0" "02327" "CHD2_000167" "g.93543813A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93000583A>T" "" "pathogenic" "" "0000615658" "0" "30" "15" "93545552" "93545552" "subst" "0.000299507" "02326" "CHD2_000168" "g.93545552T>C" "" "" "" "CHD2(NM_001271.4):c.4278+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93002322T>C" "" "likely benign" "" "0000615659" "0" "90" "15" "93552431" "93552440" "dup" "0" "02327" "CHD2_000169" "g.93552431_93552440dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93009201_93009210dup" "" "pathogenic" "" "0000615660" "0" "90" "15" "93555584" "93555584" "subst" "0" "02327" "CHD2_000170" "g.93555584G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93012354G>A" "" "pathogenic" "" "0000623347" "0" "30" "15" "93558107" "93558107" "subst" "3.65693E-5" "02326" "CHD2_000171" "g.93558107A>G" "" "" "" "CHD2(NM_001271.4):c.4874A>G (p.N1625S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93014877A>G" "" "likely benign" "" "0000649205" "1" "90" "15" "93563370" "93563370" "subst" "0" "03575" "CHD2_000109" "g.93563370C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044912}" "Germline" "" "rs797044912" "0" "" "" "g.93020140C>T" "" "pathogenic" "" "0000657705" "0" "30" "15" "93444066" "93444066" "subst" "0" "02326" "CHD2_000172" "g.93444066A>G" "" "" "" "CHD2(NM_001271.4):c.-72+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92900836A>G" "" "likely benign" "" "0000657706" "0" "30" "15" "93496815" "93496815" "subst" "4.47649E-5" "02326" "CHD2_000173" "g.93496815A>G" "" "" "" "CHD2(NM_001271.4):c.1719+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92953585A>G" "" "likely benign" "" "0000657707" "0" "90" "15" "93524632" "93524632" "del" "0" "02327" "CHD2_000174" "g.93524632del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92981402del" "" "pathogenic" "" "0000657708" "0" "30" "15" "93527619" "93527619" "subst" "0.00422715" "01943" "CHD2_000175" "g.93527619C>T" "" "" "" "CHD2(NM_001271.3):c.3126C>T (p.D1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92984389C>T" "" "likely benign" "" "0000657709" "0" "50" "15" "93528836" "93528836" "subst" "1.21998E-5" "01943" "CHD2_000176" "g.93528836C>T" "" "" "" "CHD2(NM_001271.3):c.3346C>T (p.R1116C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92985606C>T" "" "VUS" "" "0000663262" "0" "50" "15" "93563455" "93563455" "subst" "3.65619E-5" "01164" "CHD2_000009" "g.93563455G>A" "" "" "" "" "" "Germline" "" "rs61759469" "0" "" "" "g.93020225G>A" "" "VUS" "" "0000667311" "0" "70" "2" "93470514" "93470514" "subst" "0" "00006" "CHD2_000185" "g.93470514C>G" "" "{PMID:Hamdan 2015:25356899}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.92927284C>G" "" "pathogenic (dominant)" "" "0000667500" "0" "90" "15" "93563370" "93563370" "subst" "0" "00006" "CHD2_000109" "g.93563370C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.93020140C>T" "" "pathogenic (dominant)" "ACMG" "0000667501" "0" "70" "15" "93555584" "93555584" "subst" "0" "00006" "CHD2_000183" "g.93555584G>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.93012354G>T" "" "likely pathogenic (dominant)" "ACMG" "0000667646" "0" "90" "15" "93545504" "93545506" "del" "0" "00006" "CHD2_000182" "g.(93545504_93545506del)" "" "{PMID:Carvill 2013:23708187}" "" "Glu1412Glyfs*64" "Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected one of \')\', or a digit). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667647" "0" "90" "15" "93470540" "93470540" "subst" "0" "00006" "CHD2_000179" "g.93470540C>T" "" "{PMID:Carvill 2013:23708187}" "" "Arg121*" "" "De novo" "" "" "0" "" "" "g.92927310C>T" "" "pathogenic (dominant)" "" "0000667648" "0" "90" "15" "93492275" "93492276" "ins" "0" "00006" "CHD2_000180" "g.(93492275_93492276insT)" "" "{PMID:Carvill 2013:23708187}" "" "Gly491Valfs*13" "Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected one of \')\', or a digit). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667649" "0" "90" "15" "93563266" "93563267" "del" "0" "00006" "CHD2_000184" "g.(93563266_93563267del)" "" "{PMID:Carvill 2013:23708187}" "" "Arg1644Lysfs*22" "Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected one of \')\', or a digit). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667650" "0" "90" "15" "93496726" "93496726" "" "0" "00006" "CHD2_000178" "g.93496726T>M" "" "{PMID:Carvill 2013:23708187}" "" "Trp548Arg" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667651" "0" "90" "15" "93515610" "93515610" "subst" "0" "00006" "CHD2_000181" "g.93515610T>C" "" "{PMID:Carvill 2013:23708187}" "" "Leu823Pro" "" "De novo" "" "" "0" "" "" "g.92972380T>C" "" "pathogenic (dominant)" "" "0000673668" "0" "90" "15" "93492200" "93492200" "subst" "0" "00006" "CHD2_000186" "g.93492200C>T" "" "{PMID:Johannesen 2020:32427350}" "" "" "ACMG PSV1, PS1, PS2, PM2, PP5" "De novo" "" "" "0" "" "" "g.92948970C>T" "" "pathogenic (dominant)" "ACMG" "0000673669" "0" "70" "15" "93499759" "93499762" "del" "0" "00006" "CHD2_000187" "g.93499759_93499762del" "" "{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:27781031}" "" "1880_1883delCTTT" "ACMG PSV1, PM2; father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.92956529_92956532del" "" "likely pathogenic" "ACMG" "0000680346" "0" "30" "15" "93528805" "93528805" "subst" "7.3169E-5" "02326" "CHD2_000188" "g.93528805G>A" "" "" "" "CHD2(NM_001271.4):c.3315G>A (p.T1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680347" "0" "30" "15" "93545552" "93545552" "subst" "0.000299507" "02325" "CHD2_000168" "g.93545552T>C" "" "" "" "CHD2(NM_001271.4):c.4278+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680348" "0" "30" "15" "93555670" "93555670" "subst" "2.15006E-5" "01943" "CHD2_000189" "g.93555670A>G" "" "" "" "CHD2(NM_001271.3):c.4688A>G (p.E1563G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683682" "0" "90" "15" "93499733" "93499733" "subst" "0" "00006" "CHD2_000190" "g.93499733A>T" "" "{PMID:Mahler 2019:31056085}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000691917" "0" "30" "15" "93541859" "93541859" "subst" "4.07236E-5" "01943" "CHD2_000191" "g.93541859C>A" "" "" "" "CHD2(NM_001271.3):c.4008+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704156" "0" "90" "15" "93521552" "93521552" "subst" "0" "01807" "CHD2_000192" "g.93521552G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000725391" "0" "50" "15" "93470538" "93470538" "subst" "8.12982E-6" "02325" "CHD2_000193" "g.93470538C>T" "" "" "" "CHD2(NM_001271.4):c.359C>T (p.S120L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725392" "0" "90" "15" "93496803" "93496803" "subst" "0" "02327" "CHD2_000194" "g.93496803G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725393" "0" "50" "15" "93543758" "93543758" "subst" "4.93084E-5" "02329" "CHD2_000177" "g.93543758G>A" "" "" "" "CHD2(NM_001271.4):c.4025G>A (p.R1342Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725394" "0" "50" "15" "93543791" "93543791" "subst" "8.12625E-5" "02329" "CHD2_000005" "g.93543791C>T" "" "" "" "CHD2(NM_001271.4):c.4058C>T (p.P1353L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725395" "0" "30" "15" "93552494" "93552494" "subst" "0.0001706" "02326" "CHD2_000195" "g.93552494C>T" "" "" "" "CHD2(NM_001271.4):c.4533C>T (p.D1511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725396" "0" "50" "15" "93552516" "93552516" "subst" "0" "02325" "CHD2_000125" "g.93552516G>A" "" "" "" "CHD2(NM_001271.4):c.4555G>A (p.A1519T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735225" "0" "90" "15" "93480836" "93480836" "subst" "0" "03286" "CHD2_000196" "g.93480836A>T" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PVS1, PS2, PM2, PP3; The patient\'s electro-clinical phenotype, with prominent photosensitivity in particular, has overlapping features with what has previously been reported for CHD2. The novel stop variant is confirmed de novo and thus it is therefore with high confidence we expand the CHD2 clinical spectrum to PME." "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000763821" "1" "50" "15" "93518188" "93518188" "subst" "0" "00006" "CHD2_000197" "g.93518188A>G" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "2577+8A>G" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.92974958A>G" "" "VUS" "ACMG" "0000786790" "0" "90" "15" "93563244" "93563244" "subst" "0" "00006" "CHD2_000199" "g.93563244C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs864309547" "0" "" "" "g.93020014C>T" "" "pathogenic" "" "0000787233" "0" "50" "15" "93496793" "93496793" "subst" "0" "00006" "CHD2_000198" "g.93496793G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.92953563G>A" "" "VUS" "" "0000823727" "0" "50" "15" "93485126" "93485126" "del" "0" "02494" "CHD2_000200" "g.93485126del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.92941896del" "" "VUS" "" "0000854254" "0" "50" "15" "93489446" "93489446" "subst" "0" "02325" "CHD2_000201" "g.93489446G>A" "" "" "" "CHD2(NM_001271.4):c.1377G>A (p.K459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854255" "0" "30" "15" "93552444" "93552444" "subst" "3.24981E-5" "02325" "CHD2_000202" "g.93552444G>A" "" "" "" "CHD2(NM_001271.3):c.4483G>A (p.V1495M), CHD2(NM_001271.4):c.4483G>A (p.V1495M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864205" "0" "50" "15" "93552444" "93552444" "subst" "3.24981E-5" "01943" "CHD2_000202" "g.93552444G>A" "" "" "" "CHD2(NM_001271.3):c.4483G>A (p.V1495M), CHD2(NM_001271.4):c.4483G>A (p.V1495M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864206" "0" "70" "15" "93563308" "93563308" "dup" "0" "01943" "CHD2_000203" "g.93563308dup" "" "" "" "CHD2(NM_001271.3):c.4973dupG (p.S1659Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892447" "0" "30" "15" "93467727" "93467727" "subst" "0.000166539" "02325" "CHD2_000015" "g.93467727C>T" "" "" "" "CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892448" "0" "30" "15" "93489283" "93489283" "subst" "0.00011508" "02325" "CHD2_000204" "g.93489283C>T" "" "" "" "CHD2(NM_001271.4):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892449" "0" "30" "15" "93499686" "93499686" "subst" "0.000112011" "02325" "CHD2_000205" "g.93499686T>C" "" "" "" "CHD2(NM_001271.4):c.1810-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892450" "0" "90" "15" "93510649" "93510649" "subst" "0" "02327" "CHD2_000206" "g.93510649C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892451" "0" "70" "15" "93536174" "93536174" "subst" "0" "02327" "CHD2_000207" "g.93536174T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892452" "0" "50" "15" "93552557" "93552557" "del" "0" "02325" "CHD2_000208" "g.93552557del" "" "" "" "CHD2(NM_001271.4):c.4592+4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892453" "0" "50" "15" "93563404" "93563404" "subst" "8.12209E-6" "02325" "CHD2_000209" "g.93563404G>A" "" "" "" "CHD2(NM_001271.4):c.5069G>A (p.R1690Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908542" "0" "90" "15" "0" "0" "" "0" "00006" "IGF1R_000000" "g.?" "" "{PMID:Zhou 2018:29314583}" "" "D314MfsX32" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000909187" "0" "30" "15" "93563362" "93563362" "subst" "2.43661E-5" "03779" "CHD2_000210" "g.93563362G>A" "" "" "" "" "" "Unknown" "" "rs150951454" "0" "" "" "" "" "likely benign" "" "0000914432" "0" "90" "15" "93496729" "93496729" "subst" "0" "02327" "CHD2_000211" "g.93496729C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922751" "0" "90" "15" "93540535" "93540535" "dup" "0" "03544" "CHD2_000212" "g.93540535dup" "" "" "" "" "" "De novo" "-" "rs869312877" "0" "" "" "g.92997305dup" "" "pathogenic" "ACMG" "0000926091" "0" "30" "15" "93489450" "93489450" "subst" "0" "02325" "CHD2_000213" "g.93489450T>C" "" "" "" "CHD2(NM_001271.4):c.1377+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926092" "0" "50" "15" "93522378" "93522378" "subst" "0" "02327" "CHD2_000214" "g.93522378G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926093" "0" "90" "15" "93541759" "93541759" "subst" "0" "02327" "CHD2_000215" "g.93541759C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926094" "0" "50" "15" "93543766" "93543766" "subst" "4.08353E-6" "02329" "CHD2_000216" "g.93543766C>T" "" "" "" "CHD2(NM_001271.4):c.4033C>T (p.R1345W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926095" "0" "50" "15" "93567924" "93567924" "subst" "1.23847E-5" "02325" "CHD2_000217" "g.93567924C>T" "" "" "" "CHD2(NM_001271.4):c.5476C>T (p.R1826W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933301" "0" "50" "15" "93515492" "93515492" "subst" "4.16535E-6" "03779" "CHD2_000218" "g.93515492C>T" "" "" "" "" "" "Unknown" "" "rs558236184" "0" "" "" "" "" "VUS" "" "0000935958" "0" "90" "15" "93496777" "93496777" "subst" "0" "00006" "CHD2_000219" "g.93496777A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92953547A>G" "" "pathogenic (dominant)" "" "0000935967" "0" "70" "15" "93563388" "93563388" "subst" "1.62451E-5" "00006" "CHD2_000220" "g.93563388C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.93020158C>T" "" "likely pathogenic (dominant)" "ACMG" "0000950493" "0" "90" "15" "93518140" "93518140" "subst" "0" "02327" "CHD2_000059" "g.93518140G>A" "" "" "" "CHD2(NM_001271.4):c.2537G>A (p.R846Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950494" "0" "50" "15" "93552499" "93552499" "subst" "0" "02327" "CHD2_000221" "g.93552499T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968066" "0" "90" "15" "93563244" "93563244" "subst" "0" "02327" "CHD2_000199" "g.93563244C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981536" "0" "30" "15" "93444492" "93444492" "subst" "0" "02327" "CHD2_000226" "g.93444492C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981537" "0" "50" "15" "93558129" "93558129" "subst" "0" "02329" "CHD2_000227" "g.93558129C>A" "" "" "" "CHD2(NM_001271.4):c.4896C>A (p.F1632L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981538" "0" "50" "15" "93563394" "93563394" "subst" "3.65515E-5" "01804" "CHD2_000228" "g.93563394G>A" "" "" "" "CHD2(NM_001271.4):c.5059G>A (p.(Gly1687Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981539" "0" "30" "15" "93567823" "93567823" "subst" "0" "01804" "CHD2_000229" "g.93567823C>G" "" "" "" "CHD2(NM_001271.4):c.5375C>G (p.(Ser1792Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001809" "0" "50" "15" "93467598" "93467598" "subst" "0" "01804" "CHD2_000230" "g.93467598C>T" "" "" "" "CHD2(NM_001271.3):c.110C>T (p.(Ser37Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001810" "0" "50" "15" "93467673" "93467673" "subst" "0" "01804" "CHD2_000231" "g.93467673G>A" "" "" "" "CHD2(NM_001271.3):c.185G>A (p.(Ser62Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001811" "0" "30" "15" "93482864" "93482864" "subst" "0.00335502" "01804" "CHD2_000024" "g.93482864A>G" "" "" "" "CHD2(NM_001271.3):c.608A>G (p.K203R, p.(Lys203Arg)), CHD2(NM_001271.4):c.608A>G (p.K203R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001812" "0" "50" "15" "93486168" "93486168" "subst" "0" "01804" "CHD2_000118" "g.93486168C>T" "" "" "" "CHD2(NM_001271.3):c.922C>T (p.(Leu308Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001813" "0" "50" "15" "93486229" "93486229" "subst" "0" "01804" "CHD2_000232" "g.93486229A>G" "" "" "" "CHD2(NM_001271.3):c.983A>G (p.(Gln328Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001814" "0" "70" "15" "93486299" "93486299" "subst" "0" "01804" "CHD2_000233" "g.93486299G>T" "" "" "" "CHD2(NM_001271.3):c.1052+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001815" "0" "50" "15" "93489343" "93489343" "subst" "0" "01804" "CHD2_000042" "g.93489343G>C" "" "" "" "CHD2(NM_001271.3):c.1274G>C (p.(Cys425Ser)), CHD2(NM_001271.4):c.1274G>C (p.C425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001816" "0" "50" "15" "93489343" "93489343" "subst" "0" "02325" "CHD2_000042" "g.93489343G>C" "" "" "" "CHD2(NM_001271.3):c.1274G>C (p.(Cys425Ser)), CHD2(NM_001271.4):c.1274G>C (p.C425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001817" "0" "90" "15" "93515112" "93515112" "del" "0" "02325" "CHD2_000234" "g.93515112del" "" "" "" "CHD2(NM_001271.4):c.2307delA (p.K769Nfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001818" "0" "50" "15" "93515595" "93515595" "subst" "0" "02327" "CHD2_000235" "g.93515595G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001819" "0" "50" "15" "93540628" "93540628" "subst" "0" "01804" "CHD2_000236" "g.93540628G>C" "" "" "" "CHD2(NM_001271.3):c.3880G>C (p.(Asp1294His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001820" "0" "50" "15" "93543750" "93543752" "del" "1.24738E-5" "01804" "CHD2_000237" "g.93543750_93543752del" "" "" "" "CHD2(NM_001271.3):c.4017_4019delAAA (p.(Lys1340del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001821" "0" "30" "15" "93547951" "93547951" "subst" "8.15062E-6" "01804" "CHD2_000238" "g.93547951T>G" "" "" "" "CHD2(NM_001271.3):c.4383T>G (p.(Asp1461Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001822" "0" "30" "15" "93563319" "93563319" "subst" "0.000121847" "01804" "CHD2_000008" "g.93563319C>T" "" "" "" "CHD2(NM_001271.3):c.4984C>T (p.(His1662Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001823" "0" "50" "15" "93563352" "93563352" "subst" "1.21829E-5" "01804" "CHD2_000239" "g.93563352C>T" "" "" "" "CHD2(NM_001271.3):c.5017C>T (p.(His1673Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001824" "0" "10" "15" "93567784" "93567784" "subst" "8.12203E-6" "01804" "CHD2_000240" "g.93567784C>G" "" "" "" "CHD2(NM_001271.3):c.5336C>G (p.(Pro1779Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001825" "0" "50" "15" "93567835" "93567837" "del" "0" "01804" "CHD2_000241" "g.93567835_93567837del" "" "" "" "CHD2(NM_001271.3):c.5387_5389delCTC (p.(Pro1796del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011942" "0" "90" "15" "93521483" "93521483" "subst" "0" "00006" "CHD2_000242" "g.93521483C>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.92978253C>A" "RCV001072011.1" "pathogenic" "" "0001015275" "0" "70" "15" "93492290" "93492290" "subst" "0" "02329" "CHD2_000243" "g.93492290G>C" "" "" "" "CHD2(NM_001271.4):c.1486G>C (p.A496P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001017651" "1" "30" "15" "93443759" "93443759" "subst" "0" "00006" "CHASERR_000004" "g.93443759G>C" "" "{PMID:Ganesh 2024:39442041}" "" "" "" "De novo" "" "" "0" "" "" "g.92900529G>C" "" "likely benign" "" "0001017750" "0" "70" "15" "93527562" "93527562" "dup" "0" "03544" "CHD2_000244" "g.93527562dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92984332dup" "{CV:3381754}" "likely pathogenic" "ACMG" "0001026550" "0" "50" "15" "93485113" "93485113" "subst" "0" "02325" "CHD2_000245" "g.93485113G>A" "" "" "" "CHD2(NM_001271.4):c.754G>A (p.G252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040706" "0" "30" "15" "93467727" "93467727" "subst" "0.000166539" "01804" "CHD2_000015" "g.93467727C>T" "" "" "" "CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040707" "0" "30" "15" "93478529" "93478529" "subst" "0" "01804" "CHD2_000246" "g.93478529G>C" "" "" "" "CHD2(NM_001271.4):c.444-2219G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040708" "0" "50" "15" "93521074" "93521074" "subst" "0" "01804" "CHD2_000247" "g.93521074G>A" "" "" "" "CHD2(NM_001271.4):c.2578-390G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040709" "0" "30" "15" "93524145" "93524145" "subst" "0.000265295" "02325" "CHD2_000248" "g.93524145A>G" "" "" "" "CHD2(NM_001271.4):c.2973+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040710" "0" "30" "15" "93543742" "93543742" "subst" "4.17969E-6" "01804" "CHD2_000249" "g.93543742G>A" "" "" "" "CHD2(NM_001271.4):c.4009G>A (p.(Ala1337Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040711" "0" "50" "15" "93555628" "93555628" "subst" "0" "01804" "CHD2_000250" "g.93555628A>G" "" "" "" "CHD2(NM_001271.4):c.4646A>G (p.(His1549Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040712" "0" "10" "15" "93563368" "93563368" "subst" "0.000182747" "01804" "CHD2_000251" "g.93563368G>A" "" "" "" "CHD2(NM_001271.4):c.5033G>A (p.(Arg1678Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040713" "0" "30" "15" "93575307" "93575307" "subst" "0" "01804" "CHD2_000252" "g.93575307G>A" "" "" "" "CHD2(NM_001271.4):c.*7372G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045362" "0" "70" "15" "93514998" "93514998" "subst" "0" "03779" "CHD2_000253" "g.93514998G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001045478" "0" "90" "15" "93545442" "93545442" "dup" "0" "03544" "CHD2_000124" "g.93545442dup" "" "" "" "" "" "Germline" "-" "rs749969667" "0" "" "" "g.93002212dup" "{CV:218395}" "pathogenic" "ACMG" "0001046524" "0" "30" "15" "93482851" "93482851" "subst" "2.43782E-5" "02325" "CHD2_000254" "g.93482851C>T" "" "" "" "CHD2(NM_001271.4):c.595C>T (p.R199C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055264" "0" "70" "15" "93444526" "93444526" "subst" "0" "01804" "CHD2_000255" "g.93444526C>A" "" "" "" "CHD2(NM_001271.4):c.59C>A (p.(Ser20*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055265" "0" "50" "15" "93485185" "93485185" "subst" "4.10698E-6" "01804" "CHD2_000256" "g.93485185G>A" "" "" "" "CHD2(NM_001271.4):c.826G>A (p.(Ala276Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055266" "0" "50" "15" "93563388" "93563388" "subst" "1.62451E-5" "01804" "CHD2_000220" "g.93563388C>T" "" "" "" "CHD2(NM_001271.4):c.5053C>T (p.(Arg1685Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058535" "0" "90" "15" "93536087" "93536087" "subst" "0" "00006" "CHD2_000257" "g.93536087A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.92992857A>G" "" "pathogenic" "" "0001060542" "0" "70" "15" "93545401" "93545401" "subst" "0" "00006" "CHD2_000258" "g.93545401T>G" "" "{PMID:Wai 2020:32123317}" "" "" "downstream exon skipped" "Germline" "" "" "0" "" "" "g.93002171T>G" "" "VUS" "" "0001066305" "0" "50" "15" "93486190" "93486190" "subst" "1.21887E-5" "02325" "CHD2_000259" "g.93486190C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066306" "0" "50" "15" "93489441" "93489441" "subst" "0" "02325" "CHD2_000260" "g.93489441T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066307" "0" "90" "15" "93492257" "93492257" "subst" "0" "01804" "CHD2_000261" "g.93492257C>T" "" "" "" "CHD2(NM_001271.4):c.1453C>T (p.(Arg485*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001066308" "0" "70" "15" "93496728" "93496728" "subst" "0" "01804" "CHD2_000262" "g.93496728G>A" "" "" "" "CHD2(NM_001271.4):c.1644G>A (p.(Trp548*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001066309" "0" "30" "15" "93543791" "93543791" "subst" "8.12625E-5" "02325" "CHD2_000005" "g.93543791C>T" "" "" "" "CHD2(NM_001271.4):c.4058C>T (p.P1353L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CHD2 ## Count = 277 "{{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}}" "0000079415" "00005079" "00" "4799" "0" "4814" "0" "c.4799_4814del" "r.(?)" "p.(Asn1600SerfsTer209)" "" "0000079639" "00005079" "00" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" "" "0000130122" "00005079" "70" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(His690Tyr)" "" "0000188124" "00005079" "00" "5120" "0" "5120" "0" "c.5120G>A" "r.(?)" "p.(Arg1707Gln)" "" "0000188165" "00005079" "00" "4984" "0" "4984" "0" "c.4984C>T" "r.(?)" "p.(His1662Tyr)" "" "0000188307" "00005079" "00" "4984" "0" "4984" "0" "c.4984C>T" "r.(?)" "p.(His1662Tyr)" "" "0000188314" "00005079" "00" "4984" "0" "4984" "0" "c.4984C>T" "r.(?)" "p.(His1662Tyr)" "" "0000188365" "00005079" "00" "4058" "0" "4058" "0" "c.4058C>T" "r.(?)" "p.(Pro1353Leu)" "" "0000188382" "00005079" "00" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000188404" "00005079" "00" "4829" "0" "4829" "0" "c.4829C>T" "r.(?)" "p.(Ala1610Val)" "" "0000188522" "00005079" "00" "4534" "0" "4534" "0" "c.4534C>T" "r.(?)" "p.(Arg1512Trp)" "" "0000248201" "00005079" "10" "2718" "0" "2718" "0" "c.2718A>G" "r.(?)" "p.(Gln906=)" "" "0000248676" "00005079" "10" "2049" "0" "2049" "0" "c.2049A>G" "r.(?)" "p.(Glu683=)" "" "0000250803" "00005079" "30" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Lys203Arg)" "" "0000250904" "00005079" "10" "2718" "0" "2718" "0" "c.2718A>G" "r.(?)" "p.(Gln906=)" "" "0000251586" "00005079" "10" "3595" "100" "3595" "100" "c.3595+100A>G" "r.(=)" "p.(=)" "" "0000251587" "00005079" "10" "5153" "152" "5153" "152" "c.5153+152A>T" "r.(=)" "p.(=)" "" "0000251946" "00005079" "30" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asn364Ser)" "" "0000252249" "00005079" "30" "62" "3534" "62" "3534" "c.62+3534A>G" "r.(=)" "p.(=)" "" "0000252250" "00005079" "30" "62" "3672" "62" "3672" "c.62+3672A>G" "r.(=)" "p.(=)" "" "0000252251" "00005079" "30" "295" "-154" "295" "-154" "c.295-154A>T" "r.(=)" "p.(=)" "" "0000252252" "00005079" "30" "444" "-4" "444" "-4" "c.444-4A>C" "r.spl?" "p.?" "" "0000252253" "00005079" "30" "826" "27" "826" "27" "c.826+27A>T" "r.(=)" "p.(=)" "" "0000252254" "00005079" "30" "1053" "-96" "1053" "-96" "c.1053-96A>G" "r.(=)" "p.(=)" "" "0000252255" "00005079" "30" "1199" "-20" "1199" "-20" "c.1199-20A>T" "r.(=)" "p.(=)" "" "0000252256" "00005079" "30" "1377" "151" "1377" "151" "c.1377+151A>T" "r.(=)" "p.(=)" "" "0000252257" "00005079" "30" "1502" "145" "1502" "145" "c.1502+145A>G" "r.(=)" "p.(=)" "" "0000252258" "00005079" "30" "1502" "156" "1502" "156" "c.1502+156A>G" "r.(=)" "p.(=)" "" "0000252259" "00005079" "30" "1810" "-158" "1810" "-158" "c.1810-158A>G" "r.(=)" "p.(=)" "" "0000252260" "00005079" "30" "2000" "24" "2000" "24" "c.2000+24A>G" "r.(=)" "p.(=)" "" "0000252261" "00005079" "30" "2190" "-89" "2190" "-89" "c.2190-89A>T" "r.(=)" "p.(=)" "" "0000252262" "00005079" "30" "2353" "-10" "2353" "-10" "c.2353-10A>G" "r.(=)" "p.(=)" "" "0000252263" "00005079" "30" "2506" "-46" "2506" "-46" "c.2506-46A>G" "r.(=)" "p.(=)" "" "0000252264" "00005079" "30" "2577" "92" "2577" "92" "c.2577+92A>C" "r.(=)" "p.(=)" "" "0000252265" "00005079" "30" "2727" "46" "2727" "46" "c.2727+46del" "r.(=)" "p.(=)" "" "0000252266" "00005079" "30" "3237" "150" "3237" "150" "c.3237+150A>G" "r.(=)" "p.(=)" "" "0000252267" "00005079" "30" "3885" "135" "3885" "135" "c.3885+135A>G" "r.(=)" "p.(=)" "" "0000252268" "00005079" "30" "4137" "37" "4137" "37" "c.4137+37A>G" "r.(=)" "p.(=)" "" "0000252269" "00005079" "30" "4278" "27" "4278" "27" "c.4278+27A>G" "r.(=)" "p.(=)" "" "0000252270" "00005079" "30" "4278" "52" "4278" "52" "c.4278+52A>G" "r.(=)" "p.(=)" "" "0000252271" "00005079" "30" "4414" "-97" "4414" "-97" "c.4414-97del" "r.(=)" "p.(=)" "" "0000252272" "00005079" "30" "4593" "-34" "4593" "-34" "c.4593-34A>G" "r.(=)" "p.(=)" "" "0000252273" "00005079" "30" "4906" "41" "4906" "41" "c.4906+41A>G" "r.(=)" "p.(=)" "" "0000252274" "00005079" "30" "4907" "-65" "4907" "-65" "c.4907-65del" "r.(=)" "p.(=)" "" "0000254022" "00005079" "30" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Lys203Arg)" "" "0000255081" "00005079" "30" "960" "0" "960" "0" "c.960A>T" "r.(?)" "p.(Thr320=)" "" "0000256717" "00005079" "50" "2352" "7" "2352" "7" "c.2352+7A>G" "r.(=)" "p.(=)" "" "0000266758" "00005079" "30" "2577" "7" "2577" "7" "c.2577+7T>C" "r.(=)" "p.(=)" "" "0000268108" "00005079" "50" "2537" "0" "2537" "0" "c.2537G>A" "r.(?)" "p.(Arg846Gln)" "" "0000270078" "00005079" "30" "-71" "-104" "-71" "-104" "c.-71-104T>G" "r.(=)" "p.(=)" "" "0000270079" "00005079" "30" "5560" "0" "5560" "0" "c.*73G>A" "r.(=)" "p.(=)" "" "0000270080" "00005079" "30" "1053" "-46" "1053" "-46" "c.1053-46C>T" "r.(=)" "p.(=)" "" "0000270081" "00005079" "30" "1153" "163" "1153" "163" "c.1153+163G>A" "r.(=)" "p.(=)" "" "0000270082" "00005079" "30" "1154" "-110" "1154" "-110" "c.1154-110T>C" "r.(=)" "p.(=)" "" "0000270083" "00005079" "30" "1154" "-113" "1154" "-113" "c.1154-113del" "r.(=)" "p.(=)" "" "0000270085" "00005079" "30" "1154" "-197" "1154" "-197" "c.1154-197C>T" "r.(=)" "p.(=)" "" "0000270086" "00005079" "30" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Cys425Ser)" "" "0000270087" "00005079" "30" "1378" "-5" "1378" "-5" "c.1378-5T>C" "r.spl?" "p.?" "" "0000270088" "00005079" "30" "1378" "-96" "1378" "-96" "c.1378-96T>G" "r.(=)" "p.(=)" "" "0000270089" "00005079" "30" "1719" "116" "1719" "116" "c.1719+116C>T" "r.(=)" "p.(=)" "" "0000270090" "00005079" "30" "180" "0" "180" "0" "c.180T>G" "r.(?)" "p.(Ser60=)" "" "0000270091" "00005079" "30" "2000" "117" "2000" "117" "c.2000+117G>A" "r.(=)" "p.(=)" "" "0000270092" "00005079" "30" "2189" "68" "2189" "68" "c.2189+68T>C" "r.(=)" "p.(=)" "" "0000270093" "00005079" "30" "2190" "-59" "2190" "-59" "c.2190-59G>T" "r.(=)" "p.(=)" "" "0000270094" "00005079" "30" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Pro80Leu)" "" "0000270095" "00005079" "30" "2577" "7" "2577" "7" "c.2577+7T>C" "r.(=)" "p.(=)" "" "0000270096" "00005079" "30" "2578" "-133" "2578" "-133" "c.2578-133C>T" "r.(=)" "p.(=)" "" "0000270097" "00005079" "70" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900Ter)" "" "0000270098" "00005079" "30" "2877" "-133" "2877" "-133" "c.2877-133G>A" "r.(=)" "p.(=)" "" "0000270099" "00005079" "30" "2877" "-47" "2877" "-47" "c.2877-47T>G" "r.(=)" "p.(=)" "" "0000270100" "00005079" "30" "295" "-20" "295" "-20" "c.295-20G>A" "r.(=)" "p.(=)" "" "0000270101" "00005079" "10" "2973" "61" "2973" "61" "c.2973+61T>C" "r.(=)" "p.(=)" "" "0000270102" "00005079" "30" "2974" "-56" "2974" "-56" "c.2974-56T>C" "r.(=)" "p.(=)" "" "0000270103" "00005079" "30" "3066" "154" "3066" "154" "c.3066+154G>A" "r.(=)" "p.(=)" "" "0000270104" "00005079" "30" "3237" "79" "3237" "79" "c.3237+79G>A" "r.(=)" "p.(=)" "" "0000270105" "00005079" "30" "3413" "42" "3413" "42" "c.3413+42C>T" "r.(=)" "p.(=)" "" "0000270106" "00005079" "30" "3414" "-1685" "3414" "-1685" "c.3414-1685C>T" "r.(=)" "p.(=)" "" "0000270107" "00005079" "30" "3455" "19" "3455" "19" "c.3455+19T>C" "r.(=)" "p.(=)" "" "0000270108" "00005079" "30" "3595" "86" "3595" "86" "c.3595+86C>A" "r.(=)" "p.(=)" "" "0000270109" "00005079" "30" "382" "-179" "382" "-179" "c.382-179T>C" "r.(=)" "p.(=)" "" "0000270110" "00005079" "70" "3844" "0" "3844" "0" "c.3844G>T" "r.(?)" "p.(Glu1282Ter)" "" "0000270111" "00005079" "30" "3885" "123" "3885" "123" "c.3885+123G>A" "r.(=)" "p.(=)" "" "0000270112" "00005079" "30" "4008" "148" "4008" "148" "c.4008+148G>C" "r.(=)" "p.(=)" "" "0000270113" "00005079" "30" "4008" "76" "4008" "76" "c.4008+76G>A" "r.(=)" "p.(=)" "" "0000270114" "00005079" "10" "4008" "83" "4008" "83" "c.4008+83C>T" "r.(=)" "p.(=)" "" "0000270115" "00005079" "30" "4008" "9" "4008" "9" "c.4008+9G>A" "r.(=)" "p.(=)" "" "0000270116" "00005079" "30" "4138" "-15" "4138" "-15" "c.4138-15T>G" "r.(=)" "p.(=)" "" "0000270117" "00005079" "30" "4138" "-6" "4138" "-6" "c.4138-6T>C" "r.(=)" "p.(=)" "" "0000270118" "00005079" "30" "4138" "-72" "4138" "-72" "c.4138-72T>G" "r.(=)" "p.(=)" "" "0000270119" "00005079" "30" "4414" "-146" "4414" "-146" "c.4414-146C>A" "r.(=)" "p.(=)" "" "0000270120" "00005079" "10" "4414" "-26" "4414" "-26" "c.4414-26G>A" "r.(=)" "p.(=)" "" "0000270121" "00005079" "30" "443" "223" "443" "223" "c.443+223T>G" "r.(=)" "p.(=)" "" "0000270123" "00005079" "30" "4593" "-204" "4593" "-204" "c.4593-204C>G" "r.(=)" "p.(=)" "" "0000270124" "00005079" "30" "4692" "199" "4692" "199" "c.4692+199T>A" "r.(=)" "p.(=)" "" "0000270125" "00005079" "30" "4693" "-111" "4693" "-111" "c.4693-111C>T" "r.(=)" "p.(=)" "" "0000270126" "00005079" "10" "4721" "0" "4721" "0" "c.4721G>C" "r.(?)" "p.(Gly1574Ala)" "" "0000270127" "00005079" "30" "4906" "170" "4906" "170" "c.4906+170T>A" "r.(=)" "p.(=)" "" "0000270128" "00005079" "30" "4907" "-65" "4907" "-65" "c.4907-65dup" "r.(=)" "p.(=)" "" "0000270129" "00005079" "30" "4907" "-66" "4907" "-65" "c.4907-66_4907-65dup" "r.(=)" "p.(=)" "" "0000270131" "00005079" "90" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(Arg1679Ter)" "" "0000270132" "00005079" "30" "5036" "0" "5036" "0" "c.5036G>A" "r.(?)" "p.(Arg1679Gln)" "" "0000270133" "00005079" "30" "5128" "0" "5128" "0" "c.5128C>T" "r.(?)" "p.(Arg1710Trp)" "" "0000270134" "00005079" "10" "5153" "124" "5153" "124" "c.5153+124C>G" "r.(=)" "p.(=)" "" "0000270135" "00005079" "30" "5153" "70" "5153" "70" "c.5153+70T>C" "r.(=)" "p.(=)" "" "0000270136" "00005079" "30" "551" "116" "551" "116" "c.551+116C>A" "r.(=)" "p.(=)" "" "0000270137" "00005079" "30" "62" "3644" "62" "3644" "c.62+3644G>C" "r.(=)" "p.(=)" "" "0000270138" "00005079" "30" "692" "116" "692" "116" "c.692+116C>G" "r.(=)" "p.(=)" "" "0000270139" "00005079" "10" "693" "-122" "693" "-122" "c.693-122C>G" "r.(=)" "p.(=)" "" "0000270140" "00005079" "30" "826" "115" "826" "115" "c.826+115T>C" "r.(=)" "p.(=)" "" "0000270141" "00005079" "30" "827" "-146" "827" "-146" "c.827-146G>C" "r.(=)" "p.(=)" "" "0000273440" "00005079" "30" "1038" "0" "1038" "0" "c.1038C>T" "r.(?)" "p.(Asp346=)" "" "0000273441" "00005079" "50" "4078" "0" "4078" "0" "c.4078G>A" "r.(?)" "p.(Gly1360Arg)" "" "0000273443" "00005079" "70" "4923" "0" "4939" "0" "c.4923_4939del" "r.(?)" "p.(Arg1642LeufsTer19)" "" "0000273444" "00005079" "30" "5049" "0" "5049" "0" "c.5049C>T" "r.(?)" "p.(Ala1683=)" "" "0000324326" "00005079" "50" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Arg114Ter)" "" "0000338985" "00005079" "70" "1153" "1" "1153" "1" "c.1153+1G>A" "r.spl?" "p.?" "" "0000341186" "00005079" "50" "4555" "0" "4555" "0" "c.4555G>A" "r.(?)" "p.(Ala1519Thr)" "" "0000343382" "00005079" "90" "2410" "0" "2410" "0" "c.2410C>T" "r.(?)" "p.(Arg804Ter)" "" "0000344790" "00005079" "90" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Gln36Ter)" "" "0000347095" "00005079" "50" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Leu308Phe)" "" "0000347913" "00005079" "50" "2797" "0" "2797" "0" "c.2797A>G" "r.(?)" "p.(Met933Val)" "" "0000350584" "00005079" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" "0000556271" "00005079" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Pro80Leu)" "" "0000556272" "00005079" "10" "444" "-237" "444" "-237" "c.444-237dup" "r.(=)" "p.(=)" "" "0000556273" "00005079" "50" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Cys)" "" "0000556275" "00005079" "30" "693" "-125" "693" "-125" "c.693-125G>T" "r.(=)" "p.(=)" "" "0000556276" "00005079" "30" "693" "-20" "693" "-20" "c.693-20C>T" "r.(=)" "p.(=)" "" "0000556277" "00005079" "10" "827" "-193" "827" "-193" "c.827-193dup" "r.(=)" "p.(=)" "" "0000556279" "00005079" "50" "1226" "0" "1226" "0" "c.1226A>G" "r.(?)" "p.(Asn409Ser)" "" "0000556280" "00005079" "90" "1642" "0" "1642" "0" "c.1642T>C" "r.(?)" "p.(Trp548Arg)" "" "0000556282" "00005079" "90" "2286" "0" "2286" "0" "c.2286C>A" "r.(?)" "p.(Cys762Ter)" "" "0000556283" "00005079" "50" "2479" "0" "2479" "0" "c.2479C>G" "r.(?)" "p.(Leu827Val)" "" "0000556284" "00005079" "30" "2505" "39" "2505" "39" "c.2505+39C>G" "r.(=)" "p.(=)" "" "0000556285" "00005079" "30" "2577" "7" "2577" "7" "c.2577+7T>C" "r.(=)" "p.(=)" "" "0000556286" "00005079" "70" "2670" "0" "2670" "0" "c.2670C>G" "r.(?)" "p.(Asn890Lys)" "" "0000556287" "00005079" "50" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Arg914Cys)" "" "0000556288" "00005079" "90" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Arg914Cys)" "" "0000556289" "00005079" "50" "2810" "0" "2810" "0" "c.2810A>G" "r.(?)" "p.(His937Arg)" "" "0000556290" "00005079" "50" "3177" "0" "3177" "0" "c.3177G>C" "r.(?)" "p.(Glu1059Asp)" "" "0000556291" "00005079" "50" "3237" "0" "3237" "0" "c.3237G>C" "r.(?)" "p.(Lys1079Asn)" "" "0000556292" "00005079" "70" "3370" "0" "3370" "0" "c.3370C>T" "r.(?)" "p.(Arg1124Trp)" "" "0000556293" "00005079" "30" "3413" "47" "3413" "47" "c.3413+47T>C" "r.(=)" "p.(=)" "" "0000556294" "00005079" "30" "3531" "0" "3531" "0" "c.3531C>G" "r.(?)" "p.(Ile1177Met)" "" "0000556295" "00005079" "10" "3564" "0" "3564" "0" "c.3564C>T" "r.(?)" "p.(Tyr1188=)" "" "0000556296" "00005079" "30" "3573" "0" "3573" "0" "c.3573G>A" "r.(?)" "p.(Gln1191=)" "" "0000556297" "00005079" "90" "3782" "0" "3782" "0" "c.3782G>T" "r.(?)" "p.(Trp1261Leu)" "" "0000556298" "00005079" "90" "3787" "0" "3787" "0" "c.3787del" "r.(?)" "p.(Val1263TrpfsTer21)" "" "0000556299" "00005079" "30" "4022" "0" "4022" "0" "c.4022A>C" "r.(?)" "p.(Lys1341Thr)" "" "0000556300" "00005079" "10" "4219" "0" "4219" "0" "c.4219T>A" "r.(?)" "p.(Ser1407Thr)" "" "0000556301" "00005079" "30" "4278" "7" "4278" "9" "c.4278+7_4278+9dup" "r.(=)" "p.(=)" "" "0000556302" "00005079" "90" "4318" "0" "4318" "0" "c.4318C>T" "r.(?)" "p.(Arg1440Ter)" "" "0000556303" "00005079" "10" "4413" "15" "4413" "15" "c.4413+15C>T" "r.(=)" "p.(=)" "" "0000556304" "00005079" "30" "4542" "0" "4542" "0" "c.4542C>T" "r.(?)" "p.(Ala1514=)" "" "0000556305" "00005079" "30" "4693" "-134" "4693" "-134" "c.4693-134T>G" "r.(=)" "p.(=)" "" "0000556306" "00005079" "30" "4693" "-133" "4693" "-133" "c.4693-133T>G" "r.(=)" "p.(=)" "" "0000556307" "00005079" "30" "4953" "0" "4953" "0" "c.4953C>T" "r.(?)" "p.(Gly1651=)" "" "0000556308" "00005079" "50" "5050" "0" "5050" "0" "c.5050C>T" "r.(?)" "p.(His1684Tyr)" "" "0000556309" "00005079" "30" "5050" "0" "5050" "0" "c.5050C>T" "r.(?)" "p.(His1684Tyr)" "" "0000556311" "00005079" "30" "5368" "0" "5368" "0" "c.5368C>T" "r.(?)" "p.(Pro1790Ser)" "" "0000577970" "00005079" "50" "3113" "0" "3113" "0" "c.3113G>C" "r.(?)" "p.Arg1038Pro" "" "0000598347" "00005079" "70" "2973" "1" "2973" "1" "c.2973+1G>A" "r.(?)" "p.(?)" "" "0000615653" "00005079" "50" "382" "0" "382" "0" "c.382del" "r.(?)" "p.(Ala128GlnfsTer18)" "" "0000615654" "00005079" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Pro405=)" "" "0000615655" "00005079" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "" "0000615657" "00005079" "90" "4080" "0" "4080" "0" "c.4080A>T" "r.(?)" "p.(Gly1360=)" "" "0000615658" "00005079" "30" "4278" "5" "4278" "5" "c.4278+5T>C" "r.spl?" "p.?" "" "0000615659" "00005079" "90" "4470" "0" "4479" "0" "c.4470_4479dup" "r.(?)" "p.(Asn1494GlnfsTer28)" "" "0000615660" "00005079" "90" "4602" "0" "4602" "0" "c.4602G>A" "r.(?)" "p.(Trp1534Ter)" "" "0000623347" "00005079" "30" "4874" "0" "4874" "0" "c.4874A>G" "r.(?)" "p.(Asn1625Ser)" "" "0000649205" "00005079" "90" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(Arg1679*)" "" "0000657705" "00005079" "30" "-72" "12" "-72" "12" "c.-72+12A>G" "r.(=)" "p.(=)" "" "0000657706" "00005079" "30" "1719" "12" "1719" "12" "c.1719+12A>G" "r.(=)" "p.(=)" "" "0000657707" "00005079" "90" "3011" "0" "3011" "0" "c.3011del" "r.(?)" "p.(Thr1004ArgfsTer32)" "" "0000657708" "00005079" "30" "3126" "0" "3126" "0" "c.3126C>T" "r.(?)" "p.(Asp1042=)" "" "0000657709" "00005079" "50" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116Cys)" "" "0000663262" "00005079" "50" "5120" "0" "5120" "0" "c.5120G>A" "r.(?)" "p.(Arg1707Gln)" "" "0000667311" "00005079" "70" "335" "0" "335" "0" "c.335C>G" "r.(?)" "p.(Ser112*)" "" "0000667500" "00005079" "90" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(Arg1679*)" "" "0000667501" "00005079" "70" "4602" "0" "4602" "0" "c.4602G>T" "r.(?)" "p.(Trp1534Cys)" "" "0000667646" "00005079" "90" "4235" "0" "4238" "0" "c.(4235_4238del)" "r.(?)" "p.(Glu1412Glyfs*64)" "" "0000667647" "00005079" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" "" "0000667648" "00005079" "90" "1471" "0" "1472" "0" "c.(1471_1472insT)" "r.(?)" "p.(Gly491Valfs*13)" "" "0000667649" "00005079" "90" "1431" "0" "1432" "0" "c.(1431_1432del)" "r.(?)" "p.(Arg1644Lysfs*22)" "" "0000667650" "00005079" "90" "1642" "0" "1642" "0" "c.1642T>M" "r.(?)" "p.(Trp548Arg)" "" "0000667651" "00005079" "90" "2468" "0" "2468" "0" "c.2468T>C" "r.(?)" "p.(Leu823Pro)" "" "0000673668" "00005079" "90" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466*)" "" "0000673669" "00005079" "70" "1880" "0" "1883" "0" "c.1880_1883del" "r.(?)" "p.(Ser627Tyrfs*6)" "" "0000680346" "00005079" "30" "3315" "0" "3315" "0" "c.3315G>A" "r.(?)" "p.(Thr1105=)" "" "0000680347" "00005079" "30" "4278" "5" "4278" "5" "c.4278+5T>C" "r.spl?" "p.?" "" "0000680348" "00005079" "30" "4688" "0" "4688" "0" "c.4688A>G" "r.(?)" "p.(Glu1563Gly)" "" "0000683682" "00005079" "90" "1854" "0" "1854" "0" "c.1854A>T" "r.(?)" "p.(Glu618Asp)" "" "0000691917" "00005079" "30" "4008" "8" "4008" "8" "c.4008+8C>A" "r.(=)" "p.(=)" "" "0000704156" "00005079" "90" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Trp889Ter)" "" "0000725391" "00005079" "50" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Leu)" "" "0000725392" "00005079" "90" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Thr573=)" "" "0000725393" "00005079" "50" "4025" "0" "4025" "0" "c.4025G>A" "r.(?)" "p.(Arg1342Gln)" "" "0000725394" "00005079" "50" "4058" "0" "4058" "0" "c.4058C>T" "r.(?)" "p.(Pro1353Leu)" "" "0000725395" "00005079" "30" "4533" "0" "4533" "0" "c.4533C>T" "r.(?)" "p.(Asp1511=)" "" "0000725396" "00005079" "50" "4555" "0" "4555" "0" "c.4555G>A" "r.(?)" "p.(Ala1519Thr)" "" "0000735225" "00005079" "90" "532" "0" "532" "0" "c.532A>T" "r.(?)" "p.(Arg178*)" "" "0000763821" "00005079" "50" "2577" "8" "2577" "8" "c.2577+8A>G" "r.(=)" "p.(=)" "" "0000786790" "00005079" "90" "4909" "0" "4909" "0" "c.4909C>T" "r.(?)" "p.(Arg1637Ter)" "38" "0000787233" "00005079" "50" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Ser570Asn)" "14" "0000823727" "00005079" "50" "767" "0" "767" "0" "c.767del" "r.(?)" "p.(Gln256Argfs*12)" "" "0000854254" "00005079" "50" "1377" "0" "1377" "0" "c.1377G>A" "r.(?)" "p.(Lys459=)" "" "0000854255" "00005079" "30" "4483" "0" "4483" "0" "c.4483G>A" "r.(?)" "p.(Val1495Met)" "" "0000864205" "00005079" "50" "4483" "0" "4483" "0" "c.4483G>A" "r.(?)" "p.(Val1495Met)" "" "0000864206" "00005079" "70" "4973" "0" "4973" "0" "c.4973dup" "r.(?)" "p.(Ser1659Lysfs*8)" "" "0000892447" "00005079" "30" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Pro80Leu)" "" "0000892448" "00005079" "30" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "0000892449" "00005079" "30" "1810" "-3" "1810" "-3" "c.1810-3T>C" "r.spl?" "p.?" "" "0000892450" "00005079" "90" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Arg699Trp)" "" "0000892451" "00005079" "70" "3541" "0" "3541" "0" "c.3541T>C" "r.(?)" "p.(Cys1181Arg)" "" "0000892452" "00005079" "50" "4592" "4" "4592" "4" "c.4592+4del" "r.spl?" "p.?" "" "0000892453" "00005079" "50" "5069" "0" "5069" "0" "c.5069G>A" "r.(?)" "p.(Arg1690Gln)" "" "0000908542" "00005079" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000909187" "00005079" "30" "5027" "0" "5027" "0" "c.5027G>A" "r.(?)" "p.(Gly1676Glu)" "" "0000914432" "00005079" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Gln549*)" "" "0000922751" "00005079" "90" "3787" "0" "3787" "0" "c.3787dup" "r.(?)" "p.(Val1263Glyfs*4)" "" "0000926091" "00005079" "30" "1377" "4" "1377" "4" "c.1377+4T>C" "r.spl?" "p.?" "" "0000926092" "00005079" "50" "2741" "0" "2741" "0" "c.2741G>T" "r.(?)" "p.(Arg914Leu)" "" "0000926093" "00005079" "90" "3916" "0" "3916" "0" "c.3916C>T" "r.(?)" "p.(Gln1306*)" "" "0000926094" "00005079" "50" "4033" "0" "4033" "0" "c.4033C>T" "r.(?)" "p.(Arg1345Trp)" "" "0000926095" "00005079" "50" "5476" "0" "5476" "0" "c.5476C>T" "r.(?)" "p.(Arg1826Trp)" "" "0000933301" "00005079" "50" "2353" "-3" "2353" "-3" "c.2353-3C>T" "r.(?)" "p.(?)" "" "0000935958" "00005079" "90" "1693" "0" "1693" "0" "c.1693A>G" "r.(?)" "p.(Ile565Val)" "" "0000935967" "00005079" "70" "5053" "0" "5053" "0" "c.5053C>T" "r.(?)" "p.(Arg1685Cys)" "" "0000950493" "00005079" "90" "2537" "0" "2537" "0" "c.2537G>A" "r.(?)" "p.(Arg846Gln)" "" "0000950494" "00005079" "50" "4538" "0" "4538" "0" "c.4538T>G" "r.(?)" "p.(Ile1513Arg)" "" "0000968066" "00005079" "90" "4909" "0" "4909" "0" "c.4909C>T" "r.(?)" "p.(Arg1637*)" "" "0000981536" "00005079" "30" "25" "0" "25" "0" "c.25C>A" "r.(?)" "p.(Gln9Lys)" "" "0000981537" "00005079" "50" "4896" "0" "4896" "0" "c.4896C>A" "r.(?)" "p.(Phe1632Leu)" "" "0000981538" "00005079" "50" "5059" "0" "5059" "0" "c.5059G>A" "r.(?)" "p.(Gly1687Arg)" "" "0000981539" "00005079" "30" "5375" "0" "5375" "0" "c.5375C>G" "r.(?)" "p.(Ser1792Cys)" "" "0001001809" "00005079" "50" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Ser37Leu)" "" "0001001810" "00005079" "50" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Ser62Asn)" "" "0001001811" "00005079" "30" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Lys203Arg)" "" "0001001812" "00005079" "50" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Leu308Phe)" "" "0001001813" "00005079" "50" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Gln328Arg)" "" "0001001814" "00005079" "70" "1052" "1" "1052" "1" "c.1052+1G>T" "r.spl?" "p.?" "" "0001001815" "00005079" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Cys425Ser)" "" "0001001816" "00005079" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Cys425Ser)" "" "0001001817" "00005079" "90" "2307" "0" "2307" "0" "c.2307del" "r.(?)" "p.(Lys769Asnfs*19)" "" "0001001818" "00005079" "50" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Arg818Lys)" "" "0001001819" "00005079" "50" "3880" "0" "3880" "0" "c.3880G>C" "r.(?)" "p.(Asp1294His)" "" "0001001820" "00005079" "50" "4017" "0" "4019" "0" "c.4017_4019del" "r.(?)" "p.(Lys1341del)" "" "0001001821" "00005079" "30" "4383" "0" "4383" "0" "c.4383T>G" "r.(?)" "p.(Asp1461Glu)" "" "0001001822" "00005079" "30" "4984" "0" "4984" "0" "c.4984C>T" "r.(?)" "p.(His1662Tyr)" "" "0001001823" "00005079" "50" "5017" "0" "5017" "0" "c.5017C>T" "r.(?)" "p.(His1673Tyr)" "" "0001001824" "00005079" "10" "5336" "0" "5336" "0" "c.5336C>G" "r.(?)" "p.(Pro1779Arg)" "" "0001001825" "00005079" "50" "5387" "0" "5389" "0" "c.5387_5389del" "r.(?)" "p.(Pro1796del)" "" "0001011942" "00005079" "90" "2597" "0" "2597" "0" "c.2597C>A" "r.(?)" "p.(Ser866Ter)" "" "0001015275" "00005079" "70" "1486" "0" "1486" "0" "c.1486G>C" "r.(?)" "p.(Ala496Pro)" "" "0001017651" "00005079" "30" "-367" "0" "-367" "0" "c.-367G>C" "r.(?)" "p.(=)" "" "0001017750" "00005079" "70" "3069" "0" "3069" "0" "c.3069dup" "r.?" "p.(Ala1024Cysfs*9)" "25" "0001026550" "00005079" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Gly252Arg)" "" "0001040706" "00005079" "30" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Pro80Leu)" "" "0001040707" "00005079" "30" "444" "-2219" "444" "-2219" "c.444-2219G>C" "r.(=)" "p.(=)" "" "0001040708" "00005079" "50" "2578" "-390" "2578" "-390" "c.2578-390G>A" "r.(=)" "p.(=)" "" "0001040709" "00005079" "30" "2973" "4" "2973" "4" "c.2973+4A>G" "r.spl?" "p.?" "" "0001040710" "00005079" "30" "4009" "0" "4009" "0" "c.4009G>A" "r.(?)" "p.(Ala1337Thr)" "" "0001040711" "00005079" "50" "4646" "0" "4646" "0" "c.4646A>G" "r.(?)" "p.(His1549Arg)" "" "0001040712" "00005079" "10" "5033" "0" "5033" "0" "c.5033G>A" "r.(?)" "p.(Arg1678Gln)" "" "0001040713" "00005079" "30" "12859" "0" "12859" "0" "c.*7372G>A" "r.(=)" "p.(=)" "" "0001045362" "00005079" "70" "2193" "0" "2193" "0" "c.2193G>A" "r.(?)" "p.(Trp731Ter)" "" "0001045478" "00005079" "90" "4173" "0" "4173" "0" "c.4173dup" "r.(?)" "p.(Gln1392Thrfs*17)" "33" "0001046524" "00005079" "30" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Cys)" "" "0001055264" "00005079" "70" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ser20*)" "" "0001055265" "00005079" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Ala276Thr)" "" "0001055266" "00005079" "50" "5053" "0" "5053" "0" "c.5053C>T" "r.(?)" "p.(Arg1685Cys)" "" "0001058535" "00005079" "90" "3456" "-2" "3456" "-2" "c.3456-2A>G" "r.spl" "p.?" "" "0001060542" "00005079" "70" "4138" "-6" "4138" "-6" "c.4138-6T>G" "r.4138_4278del" "p.Asp1380_Lys1426del" "" "0001066305" "00005079" "50" "944" "0" "944" "0" "c.944C>G" "r.(?)" "p.(Ser315Cys)" "" "0001066306" "00005079" "50" "1372" "0" "1372" "0" "c.1372T>A" "r.(?)" "p.(Cys458Ser)" "" "0001066307" "00005079" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485*)" "" "0001066308" "00005079" "70" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "" "0001066309" "00005079" "30" "4058" "0" "4058" "0" "c.4058C>T" "r.(?)" "p.(Pro1353Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000050435" "0000079415" "0000050659" "0000079639" "0000081036" "0000130122" "0000117279" "0000188124" "0000117320" "0000188165" "0000117462" "0000188307" "0000117469" "0000188314" "0000117527" "0000188365" "0000117527" "0000188522" "0000117543" "0000188382" "0000117562" "0000188404" "0000249244" "0000577970" "0000267293" "0000598347" "0000292516" "0000649205" "0000300550" "0000663262" "0000303909" "0000667311" "0000304102" "0000667500" "0000304103" "0000667501" "0000304218" "0000667646" "0000304219" "0000667647" "0000304220" "0000667648" "0000304221" "0000667649" "0000304222" "0000667650" "0000304223" "0000667651" "0000307103" "0000673668" "0000307104" "0000673669" "0000309182" "0000683682" "0000321327" "0000704156" "0000336143" "0000735225" "0000363255" "0000763821" "0000375439" "0000786790" "0000375882" "0000787233" "0000393112" "0000823727" "0000429120" "0000908542" "0000436376" "0000922751" "0000439829" "0000935958" "0000439838" "0000935967" "0000457439" "0001011942" "0000459583" "0001017651" "0000459659" "0001017750" "0000467614" "0001045478" "0000470413" "0001058535" "0000472130" "0001060542"