### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HDAC2) # 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}}" "HDAC2" "histone deacetylase 2" "6" "q21" "unknown" "NC_000006.11" "UD_132610776248" "" "https://www.LOVD.nl/HDAC2" "" "1" "4853" "3066" "605164" "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/HDAC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-20 12:40:14" "00000" "2024-08-28 13:16:32" ## 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}}" "00009213" "HDAC2" "transcript variant 1" "001" "NM_001527.3" "" "NP_001518.3" "" "" "" "-287" "6369" "1467" "114292359" "114257320" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05619" "RSTS" "Rubinstein-Taybi syndrome (RSTS)" "" "" "" "" "" "00006" "2019-07-05 14:41:32" "00006" "2021-12-10 21:51:32" ## 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}}" "00183690" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat35" "00442016" "" "" "" "1" "" "03112" "{PMID:Di Fede 2024:38753158}" "" "F" "no" "Italy" "" "0" "" "" "" "249" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00183690" "00139" "00442016" "05619" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05619 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000144376" "00139" "00183690" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000331399" "05619" "00442016" "03112" "Isolated (sporadic)" "04y04m" "HP:0001508, HP:0001290, HP:0001263, HP:0001249, HP:0000664, HP:0002553, HP:0000448, HP:0010761, HP:0002558, HP:0002015" "" "" "" "" "" "" "" "" "RSTS" ## 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}}" "0000184658" "00183690" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000443501" "00442016" "1" "03112" "03112" "2023-11-17 11:04:39" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000184658" "HDAC2" ## 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 = 7 "{{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}}" "0000252138" "0" "30" "6" "114262933" "114262933" "subst" "2.1992E-5" "02326" "HDAC2_000001" "g.114262933A>C" "" "" "" "HDAC2(NM_001527.4):c.1379-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113941769A>C" "" "likely benign" "" "0000285096" "0" "30" "6" "114277866" "114277866" "subst" "0.00145456" "02326" "HDAC2_000002" "g.114277866G>T" "" "" "" "HDAC2(NM_001527.4):c.284-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113956702G>T" "" "likely benign" "" "0000408782" "0" "70" "6" "114281152" "114281152" "subst" "0" "00006" "HDAC2_000003" "g.114281152C>T" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.113959988C>T" "" "likely pathogenic" "" "0000526922" "0" "50" "6" "114277851" "114277851" "subst" "0" "02329" "HDAC2_000004" "g.114277851A>C" "" "" "" "HDAC2(NM_001527.4):c.290T>G (p.V97G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113956687A>C" "" "VUS" "" "0000609949" "0" "50" "6" "114274457" "114274457" "subst" "0" "02327" "HDAC2_000005" "g.114274457C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113953293C>A" "" "VUS" "" "0000944997" "0" "70" "6" "114264564" "114264567" "del" "0" "03112" "HDAC2_000006" "g.114264564_114264567del" "" "{PMID:Di Fede 2024:38753158}" "" "1326_1329del" "" "De novo" "" "" "0" "" "" "g.113943400_113943403del" "" "likely pathogenic" "ACMG" "0000995277" "0" "30" "6" "114279873" "114279873" "subst" "0" "01804" "HDAC2_000007" "g.114279873T>C" "" "" "" "HDAC2(NM_001527.3):c.223A>G (p.(Ser75Gly))" "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 HDAC2 ## Count = 7 "{{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}}" "0000252138" "00009213" "30" "1379" "-4" "1379" "-4" "c.1379-4T>G" "r.spl?" "p.?" "" "0000285096" "00009213" "30" "284" "-9" "284" "-9" "c.284-9C>A" "r.(=)" "p.(=)" "" "0000408782" "00009213" "70" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Gly28Asp)" "2" "0000526922" "00009213" "50" "290" "0" "290" "0" "c.290T>G" "r.(?)" "p.(Val97Gly)" "" "0000609949" "00009213" "50" "623" "0" "623" "0" "c.623G>T" "r.(?)" "p.(Gly208Val)" "" "0000944997" "00009213" "70" "1330" "0" "1333" "0" "c.1330_1333del" "r.(1330_1333del)" "p.(Lys444Leufs*61)" "12" "0000995277" "00009213" "30" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Lys75Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000184658" "0000408782" "0000443501" "0000944997"