### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HDAC9) # 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}}" "HDAC9" "histone deacetylase 9" "7" "p21.1" "unknown" "NG_023250.3" "UD_132119040326" "" "https://www.LOVD.nl/HDAC9" "" "1" "14065" "9734" "606543" "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/HDAC9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-17 11:16:58" "00000" "2022-11-01 13:01:21" ## 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}}" "00025733" "HDAC9" "transcript variant 5" "007" "NM_178425.2" "" "NP_848512.1" "" "" "" "-41" "4518" "3210" "18535885" "19036993" "00006" "2022-08-22 12:03:41" "" "" ## 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}}" "05901" "ARCND" "auriculocondylar syndrome (ARCND)" "" "" "" "" "" "00006" "2021-02-17 11:15:16" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HDAC9" "05901" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00332333" "" "" "" "1" "" "00520" "{PMID:Romanelli Tavares 2022:34750192}, {PMID:Masotti 2008:18000524}" "4-generation family, 11 affected (8F, 3M)" "F;M" "no" "Brazil" "" "0" "" "" "" "Fam1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00332333" "05901" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05901 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000250520" "05901" "00332333" "00520" "Familial, autosomal dominant" "" "see paper; ..., question mark ears (HP:0030022), prominent cheeks (HP:0000293), microstomia (HP:0000160), abnormal temporomandibular joint (HP:0010754), mandibular condyle hypoplasia (HP:0007628)" "" "" "" "" "" "" "ARCND" "auriculocondylar syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000333554" "00332333" "1" "00006" "00006" "2021-02-17 11:26:18" "" "" "PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000333554" "HDAC9" ## 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 = 4 "{{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}}" "0000285098" "0" "90" "7" "18633643" "18633643" "subst" "0" "02326" "HDAC9_000001" "g.18633643C>T" "" "" "" "HDAC9(NM_178423.3):c.646C>T (p.R216*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18594020C>T" "" "pathogenic" "" "0000531566" "0" "50" "7" "18633644" "18633644" "subst" "0" "01943" "HDAC9_000002" "g.18633644G>A" "" "" "" "HDAC9(NM_001321868.1):c.713G>A (p.R238Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18594021G>A" "" "VUS" "" "0000731228" "1" "90" "7" "18476862" "18907163" "dup" "0" "00520" "HDAC9_000003" "g.18476862_18907163dup" "" "{PMID:Romanelli Tavares 2022:34750192}" "" "" "evidence of pathogeniticy provided in paper; expression of TWIST1 gene raised" "Germline" "yes" "" "0" "" "" "g.18437239_18867540dup" "" "pathogenic (dominant)" "" "0000803087" "0" "50" "7" "18914114" "18914114" "subst" "0" "01943" "HDAC9_000004" "g.18914114C>G" "" "" "" "HDAC9(NM_001321868.1):c.2623C>G (p.P875A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HDAC9 ## Count = 4 "{{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}}" "0000285098" "00025733" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Ter)" "" "0000531566" "00025733" "50" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000731228" "00025733" "90" "0" "0" "0" "0" "c.-4_2685-6938{2}" "r.?" "p.?" "" "0000803087" "00025733" "50" "2698" "0" "2698" "0" "c.2698C>G" "r.(?)" "p.(Pro900Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000333554" "0000731228"