### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHD6) # 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}}" "CHD6" "chromodomain helicase DNA binding protein 6" "20" "q12" "unknown" "NG_050686.1" "UD_132463795409" "" "https://www.LOVD.nl/CHD6" "" "1" "19057" "84181" "616114" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CHD6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-09-08 17:01:47" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025231" "CHD6" "chromodomain helicase DNA binding protein 6" "001" "NM_032221.4" "" "NP_115597.3" "" "" "" "-178" "10640" "8148" "40247133" "40030741" "00006" "2017-09-08 17:02:47" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00112648" "" "" "" "1" "" "01950" "{PMID:Kalscheuer 2008:18627065}" "" "F" "" "" "" "0" "" "" "" "" "00292927" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00112648" "00198" "00292927" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 1 "{{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}}" "0000088130" "00198" "00112648" "01950" "Isolated (sporadic)" "" "see paper; ..., mild to moderate mental retardation (HP:0001249), minor facial anomalies (HP:0000271)" "" "" "" "" "" "" "" "" "" "mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000113106" "00112648" "1" "01950" "01950" "2011-08-02 13:45:40" "00006" "2017-09-08 17:20:56" "FISH" "DNA" "" "" "0000294095" "00292927" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000113106" "CHD6" "0000113106" "TCF4" ## 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 = 31 "{{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}}" "0000195744" "1" "90" "20" "0" "0" "" "0" "00006" "CHD6_000001" "g.[NC_000018.9:(53131369_53252510)_qter]delinsg.(40180000_40246978)_qter" "" "{PMID:Kalscheuer 2008:18627065}" "" "TCF4-CHD6 fusion" "fusion transcript TCF4/CHD6 ?" "DUPLICATE record" "" "" "0" "" "t(18;20)(q21.1;q11.2)" "" "" "pathogenic" "" "0000195745" "1" "90" "20" "0" "0" "" "0" "00006" "CHD6_000003" "g.(40180000_40246978)_qterdelins[NC_000018.9:g.(53131369_53252510)_qter]" "" "{PMID:Kalscheuer 2008:18627065}" "" "CHD6-TCF4 fusion" "fusion transcript CHD6 exon 1 spliced to TCF4 exon 4" "De novo" "" "" "0" "" "t(18;20)(q21.1;q11.2)" "" "" "pathogenic" "" "0000328390" "0" "50" "20" "40049753" "40049753" "subst" "0.000175004" "01804" "CHD6_000002" "g.40049753T>C" "" "" "" "CHD6(NM_032221.3):c.5522A>G (p.(Asp1841Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41421113T>C" "" "VUS" "" "0000618120" "0" "30" "20" "40045330" "40045330" "subst" "0.000654376" "01943" "CHD6_000008" "g.40045330C>T" "" "" "" "CHD6(NM_032221.4):c.6384G>A (p.P2128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41416690C>T" "" "likely benign" "" "0000618121" "0" "30" "20" "40161792" "40161792" "subst" "0.000511742" "01943" "CHD6_000010" "g.40161792C>T" "" "" "" "CHD6(NM_032221.4):c.451G>A (p.A151T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41533153C>T" "" "likely benign" "" "0000650784" "1" "10" "20" "40040870" "40040870" "subst" "0.016862" "03575" "CHD6_000004" "g.40040870G>A" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs61752057}" "Germline" "" "rs61752057" "0" "" "" "g.41412230G>A" "" "benign" "" "0000658761" "0" "30" "20" "40045967" "40045967" "subst" "1.62688E-5" "01943" "CHD6_000011" "g.40045967T>C" "" "" "" "CHD6(NM_032221.4):c.6150A>G (p.E2050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41417327T>C" "" "likely benign" "" "0000658762" "0" "50" "20" "40161957" "40161957" "subst" "2.03721E-5" "01943" "CHD6_000012" "g.40161957G>A" "" "" "" "CHD6(NM_032221.4):c.286C>T (p.R96W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41533318G>A" "" "VUS" "" "0000692976" "0" "30" "20" "40054758" "40054758" "subst" "9.34329E-5" "01943" "CHD6_000013" "g.40054758G>A" "" "" "" "CHD6(NM_032221.4):c.4104C>T (p.S1368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692977" "0" "30" "20" "40081493" "40081493" "subst" "0.000146375" "01943" "CHD6_000014" "g.40081493C>T" "" "" "" "CHD6(NM_032221.4):c.3210G>A (p.E1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959763" "0" "50" "20" "40045865" "40045866" "del" "0" "03779" "CHD6_000015" "g.40045865_40045866del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000970142" "0" "50" "20" "40052186" "40052186" "subst" "8.12532E-6" "02325" "CHD6_000016" "g.40052186T>C" "" "" "" "CHD6(NM_032221.5):c.4501A>G (p.S1501G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970143" "0" "50" "20" "40079594" "40079594" "subst" "0.000914779" "02325" "CHD6_000017" "g.40079594G>C" "" "" "" "CHD6(NM_032221.5):c.3675C>G (p.H1225Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005374" "0" "30" "20" "40033269" "40033269" "subst" "1.14187E-5" "01804" "CHD6_000018" "g.40033269C>A" "" "" "" "CHD6(NM_032221.4):c.8112G>T (p.(Glu2704Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005375" "0" "50" "20" "40033499" "40033499" "subst" "1.21872E-5" "01804" "CHD6_000019" "g.40033499G>A" "" "" "" "CHD6(NM_032221.4):c.7882C>T (p.(Leu2628Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005376" "0" "50" "20" "40033870" "40033870" "subst" "5.68528E-5" "01804" "CHD6_000020" "g.40033870G>A" "" "" "" "CHD6(NM_032221.4):c.7511C>T (p.(Thr2504Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005377" "0" "50" "20" "40034053" "40034053" "subst" "0" "01804" "CHD6_000021" "g.40034053C>T" "" "" "" "CHD6(NM_032221.4):c.7328G>A (p.(Gly2443Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005378" "0" "50" "20" "40034077" "40034077" "subst" "0" "01804" "CHD6_000022" "g.40034077C>G" "" "" "" "CHD6(NM_032221.4):c.7304G>C (p.(Arg2435Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005379" "0" "50" "20" "40042020" "40042020" "subst" "0" "01804" "CHD6_000023" "g.40042020G>A" "" "" "" "CHD6(NM_032221.4):c.7075C>T (p.(Leu2359Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005380" "0" "50" "20" "40050407" "40050407" "subst" "1.22065E-5" "01804" "CHD6_000024" "g.40050407G>A" "" "" "" "CHD6(NM_032221.4):c.4868C>T (p.(Thr1623Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005381" "0" "50" "20" "40050491" "40050491" "subst" "7.31797E-5" "01804" "CHD6_000025" "g.40050491C>T" "" "" "" "CHD6(NM_032221.4):c.4784G>A (p.(Arg1595His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005382" "0" "30" "20" "40052263" "40052263" "subst" "0.000101569" "01804" "CHD6_000026" "g.40052263G>T" "" "" "" "CHD6(NM_032221.4):c.4424C>A (p.(Thr1475Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005383" "0" "50" "20" "40053863" "40053863" "subst" "0.000849083" "02325" "CHD6_000027" "g.40053863C>T" "" "" "" "CHD6(NM_032221.5):c.4301G>A (p.R1434K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005384" "0" "30" "20" "40054004" "40054004" "subst" "0.000178916" "01804" "CHD6_000028" "g.40054004G>A" "" "" "" "CHD6(NM_032221.4):c.4160C>T (p.(Pro1387Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005385" "0" "30" "20" "40068692" "40068692" "subst" "0.000507981" "01804" "CHD6_000029" "g.40068692A>T" "" "" "" "CHD6(NM_032221.4):c.3955T>A (p.(Ser1319Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005386" "0" "50" "20" "40118572" "40118572" "subst" "0" "01804" "CHD6_000030" "g.40118572T>C" "" "" "" "CHD6(NM_032221.4):c.1526A>G (p.(His509Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005387" "0" "50" "20" "40162164" "40162164" "subst" "1.22775E-5" "01804" "CHD6_000031" "g.40162164A>G" "" "" "" "CHD6(NM_032221.4):c.79T>C (p.(Ser27Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015861" "0" "50" "20" "40045428" "40045428" "subst" "0" "02325" "CHD6_000032" "g.40045428C>T" "" "" "" "CHD6(NM_032221.5):c.6286G>A (p.V2096M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043342" "0" "50" "20" "40043982" "40043982" "subst" "0.000101548" "01804" "CHD6_000033" "g.40043982T>C" "" "" "" "CHD6(NM_032221.5):c.6783A>G (p.(Gln2261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043343" "0" "30" "20" "40045257" "40045257" "subst" "0.00120058" "01804" "CHD6_000034" "g.40045257C>T" "" "" "" "CHD6(NM_032221.5):c.6457G>A (p.(Gly2153Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043344" "0" "30" "20" "40161864" "40161864" "subst" "8.13352E-6" "01804" "CHD6_000035" "g.40161864G>C" "" "" "" "CHD6(NM_032221.5):c.379C>G (p.(Pro127Ala))" "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 CHD6 ## Count = 31 "{{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}}" "0000195744" "00025231" "90" "0" "" "0" "" "NM_001083962.1:c.(145+1_146-1)::c.-24+1_-23-1" "r.?" "p.?" "1i" "0000195745" "00025231" "90" "0" "0" "0" "0" "c.-23_*2492{0}" "r.-178_-24::NM_001083962.1:r.146_*5704" "p.?" "1i" "0000328390" "00025231" "50" "5522" "0" "5522" "0" "c.5522A>G" "r.(?)" "p.(Asp1841Gly)" "" "0000618120" "00025231" "30" "6384" "0" "6384" "0" "c.6384G>A" "r.(?)" "p.(Pro2128=)" "" "0000618121" "00025231" "30" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Ala151Thr)" "" "0000650784" "00025231" "10" "7165" "0" "7165" "0" "c.7165C>T" "r.(?)" "p.(Arg2389Cys)" "" "0000658761" "00025231" "30" "6150" "0" "6150" "0" "c.6150A>G" "r.(?)" "p.(Glu2050=)" "" "0000658762" "00025231" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Trp)" "" "0000692976" "00025231" "30" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Ser1368=)" "" "0000692977" "00025231" "30" "3210" "0" "3210" "0" "c.3210G>A" "r.(?)" "p.(Glu1070=)" "" "0000959763" "00025231" "50" "6255" "0" "6256" "0" "c.6255_6256del" "r.(?)" "p.(Tyr2086PhefsTer4)" "" "0000970142" "00025231" "50" "4501" "0" "4501" "0" "c.4501A>G" "r.(?)" "p.(Ser1501Gly)" "" "0000970143" "00025231" "50" "3675" "0" "3675" "0" "c.3675C>G" "r.(?)" "p.(His1225Gln)" "" "0001005374" "00025231" "30" "8112" "0" "8112" "0" "c.8112G>T" "r.(?)" "p.(Glu2704Asp)" "" "0001005375" "00025231" "50" "7882" "0" "7882" "0" "c.7882C>T" "r.(?)" "p.(Leu2628Phe)" "" "0001005376" "00025231" "50" "7511" "0" "7511" "0" "c.7511C>T" "r.(?)" "p.(Thr2504Met)" "" "0001005377" "00025231" "50" "7328" "0" "7328" "0" "c.7328G>A" "r.(?)" "p.(Gly2443Glu)" "" "0001005378" "00025231" "50" "7304" "0" "7304" "0" "c.7304G>C" "r.(?)" "p.(Arg2435Pro)" "" "0001005379" "00025231" "50" "7075" "0" "7075" "0" "c.7075C>T" "r.(?)" "p.(Leu2359Phe)" "" "0001005380" "00025231" "50" "4868" "0" "4868" "0" "c.4868C>T" "r.(?)" "p.(Thr1623Ile)" "" "0001005381" "00025231" "50" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595His)" "" "0001005382" "00025231" "30" "4424" "0" "4424" "0" "c.4424C>A" "r.(?)" "p.(Thr1475Asn)" "" "0001005383" "00025231" "50" "4301" "0" "4301" "0" "c.4301G>A" "r.(?)" "p.(Arg1434Lys)" "" "0001005384" "00025231" "30" "4160" "0" "4160" "0" "c.4160C>T" "r.(?)" "p.(Pro1387Leu)" "" "0001005385" "00025231" "30" "3955" "0" "3955" "0" "c.3955T>A" "r.(?)" "p.(Ser1319Thr)" "" "0001005386" "00025231" "50" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(His509Arg)" "" "0001005387" "00025231" "50" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Ser27Pro)" "" "0001015861" "00025231" "50" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Val2096Met)" "" "0001043342" "00025231" "50" "6783" "0" "6783" "0" "c.6783A>G" "r.(?)" "p.(=)" "" "0001043343" "00025231" "30" "6457" "0" "6457" "0" "c.6457G>A" "r.(?)" "p.(Gly2153Ser)" "" "0001043344" "00025231" "30" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Pro127Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000113106" "0000195744" "0000113106" "0000195745" "0000294095" "0000650784"