### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HDAC4) # 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}}" "HDAC4" "histone deacetylase 4" "2" "q37.3" "unknown" "NG_009235.1" "UD_132118738439" "" "http://www.LOVD.nl/HDAC4" "" "1" "14063" "9759" "605314" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/HDAC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-07-21 00:00:00" "00006" "2016-05-09 21:30:53" "00000" "2025-11-01 13:22:20" ## 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}}" "00001434" "HDAC4" "histone deacetylase 4" "001" "NM_006037.3" "" "NP_006028.2" "" "" "" "-792" "8184" "3255" "239969864" "240322643" "00000" "2012-09-13 13:33:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00574" "del 2q37;BDMR" "chromosome deletion syndrome 2q37 (brachydactyly mental retardation syndrome (BDMR))" "AD" "600430" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-24 17:04:38" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" "" "06993" "NEDCHF" "neurodevelopmental disorder with central hypotonia and dysmorphic facies" "AD" "619797" "" "round face, frontal bossing, deep-set eyes, up-slanting palpebral fissures, broad nose, depressed nasal bridge, anteverted nares, thin upper lip; no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); self-injurious behaviour, sleeping difficulties, congenital heart anomalies, X-ray features of brachydactyly type E" "" "00006" "2023-01-03 20:41:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "HDAC4" "00139" "HDAC4" "00574" "HDAC4" "06993" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050607" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081127" "" "" "" "1" "" "01744" "{PMID:Williams 2010:20691407}" "" "F" "no" "Canada" "" "0" "" "" "French Canadian" "" "00081128" "" "" "" "1" "" "01744" "{PMID:Williams 2010:20691407}" "Sporadic patient" "F" "" "(Canada);(United States)" "" "0" "" "" "" "" "00100191" "" "" "" "3" "" "01744" "{PMID:Sun 2016:27984602}" "3-generation family, affected proband, father and uncle" "M" "" "(China)" "" "0" "" "" "" "" "00292658" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315027" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1427" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050607" "00198" "00081127" "00574" "00081128" "00574" "00100191" "04227" "00292658" "00198" "00315027" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00574, 01157, 04227, 06993 ## Count = 6 "{{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}}" "0000037219" "00198" "00050607" "00006" "Unknown" "" "bilateral ptosis, highly arched eyebrow, downslanted palpebral fissures, short neck, low posterior hairline, short broad hands, short broad feet" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000060986" "00574" "00081127" "00006" "Isolated (sporadic)" "" "brachydactyly mental retardation syndrome; see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000060987" "00574" "00081128" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078452" "04227" "00100191" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238779" "00198" "00315027" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Rubinstein-Taybi syndrome" "chromatinopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050552" "00050607" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081239" "00081127" "1" "01744" "01744" "2016-09-15 13:57:22" "" "" "SEQ" "DNA" "" "" "0000081240" "00081128" "1" "01744" "01744" "2016-09-15 15:08:19" "" "" "SEQ" "DNA" "" "" "0000100595" "00100191" "1" "01744" "01744" "2017-02-03 09:56:10" "" "" "SEQ;SEQ-NG-R" "DNA" "blood" "" "0000293826" "00292658" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316203" "00315027" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000050552" "HDAC4" "0000081239" "HDAC4" "0000081240" "HDAC4" "0000100595" "HDAC4" "0000100595" "TRPS1" "0000316203" "HDAC4" ## 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 = 112 "{{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}}" "0000011768" "0" "50" "2" "240146278" "240146278" "subst" "0" "00037" "HDAC4_000001" "g.240146278G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.239224582G>A" "" "VUS" "" "0000079532" "11" "90" "2" "240036937" "240036937" "subst" "2.05084E-5" "00006" "HDAC4_000002" "g.240036937G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.239115241G>A" "" "pathogenic" "" "0000130328" "0" "70" "2" "240009290" "240009290" "dup" "0" "01744" "HDAC4_000003" "g.240009290dup" "" "{PMID:Williams et al. 2010:20691407}" "" "2399_2400insC (Gly801TrpfsX77)" "" "De novo" "" "" "0" "" "" "g.239087594dup" "" "likely pathogenic" "" "0000130329" "0" "50" "2" "240098008" "240098072" "del" "0" "01744" "HDAC4_000004" "g.240098008_240098072del" "" "{PMID:Williams et al. 2010:20691407}" "" "c.490+56_121del65" "" "De novo" "" "" "0" "" "" "g.239176312_239176376del" "" "VUS" "" "0000162896" "11" "70" "2" "240098119" "240098119" "subst" "0" "01744" "HDAC4_000005" "g.240098119C>A" "" "{PMID:Sun 2016:27984602}" "" "c.480C>A (160K>N)" "" "Germline" "yes" "" "0" "" "" "g.239176423C>A" "" "likely pathogenic" "" "0000249002" "0" "10" "2" "240066417" "240066417" "subst" "0.850769" "02325" "HDAC4_000020" "g.240066417A>G" "" "" "" "HDAC4(NM_006037.4):c.734-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239144721A>G" "" "benign" "" "0000281261" "0" "50" "2" "240111713" "240111713" "subst" "0.000215381" "02325" "HDAC4_000023" "g.240111713C>T" "" "" "" "HDAC4(NM_006037.3):c.155G>A (p.R52H), HDAC4(NM_006037.4):c.155G>A (p.R52H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239190017C>T" "" "VUS" "" "0000281262" "0" "30" "2" "240033391" "240033391" "subst" "0.00210656" "02325" "HDAC4_000016" "g.240033391C>T" "" "" "" "HDAC4(NM_006037.3):c.1794G>A (p.E598=), HDAC4(NM_006037.4):c.1794G>A (p.E598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239111695C>T" "" "likely benign" "" "0000281263" "0" "10" "2" "240029736" "240029736" "subst" "0.836757" "02325" "HDAC4_000012" "g.240029736T>C" "" "" "" "HDAC4(NM_006037.4):c.2097+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239108040T>C" "" "benign" "" "0000281264" "0" "10" "2" "240016771" "240016771" "subst" "0.15384" "02325" "HDAC4_000011" "g.240016771C>T" "" "" "" "HDAC4(NM_006037.4):c.2219-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239095075C>T" "" "benign" "" "0000281265" "0" "30" "2" "240016738" "240016738" "subst" "0.000118288" "02325" "HDAC4_000010" "g.240016738C>T" "" "" "" "HDAC4(NM_006037.4):c.2233G>A (p.V745M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239095042C>T" "" "likely benign" "" "0000281266" "0" "30" "2" "240011722" "240011722" "subst" "0.00144219" "02325" "HDAC4_000009" "g.240011722C>T" "" "" "" "HDAC4(NM_006037.3):c.2356G>A (p.(Ala786Thr)), HDAC4(NM_006037.4):c.2356G>A (p.A786T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239090026C>T" "" "likely benign" "" "0000281267" "0" "10" "2" "240003870" "240003870" "subst" "0.536255" "02325" "HDAC4_000008" "g.240003870G>A" "" "" "" "HDAC4(NM_006037.4):c.2565C>T (p.P855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239082174G>A" "" "benign" "" "0000281268" "0" "30" "2" "240002771" "240002771" "subst" "0.00908174" "02325" "HDAC4_000007" "g.240002771T>G" "" "" "" "HDAC4(NM_006037.4):c.2735+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239081075T>G" "" "likely benign" "" "0000281269" "0" "30" "2" "240078397" "240078397" "subst" "0.00157958" "02325" "HDAC4_000021" "g.240078397C>T" "" "" "" "HDAC4(NM_006037.3):c.684G>A (p.P228=), HDAC4(NM_006037.4):c.684G>A (p.P228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239156701C>T" "" "likely benign" "" "0000281270" "0" "30" "2" "240061400" "240061400" "subst" "0.00306756" "02325" "HDAC4_000017" "g.240061400C>T" "" "" "" "HDAC4(NM_006037.3):c.958G>A (p.(Val320Ile)), HDAC4(NM_006037.4):c.958G>A (p.V320I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239139704C>T" "" "likely benign" "" "0000283407" "0" "50" "2" "239988468" "239988468" "subst" "1.21889E-5" "02329" "HDAC4_000006" "g.239988468C>T" "" "" "" "HDAC4(NM_006037.4):c.2938G>A (p.A980T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239066772C>T" "" "VUS" "" "0000288974" "0" "50" "2" "240111713" "240111713" "subst" "0.000215381" "01943" "HDAC4_000023" "g.240111713C>T" "" "" "" "HDAC4(NM_006037.3):c.155G>A (p.R52H), HDAC4(NM_006037.4):c.155G>A (p.R52H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239190017C>T" "" "VUS" "" "0000288975" "0" "30" "2" "240033391" "240033391" "subst" "0.00210656" "01943" "HDAC4_000016" "g.240033391C>T" "" "" "" "HDAC4(NM_006037.3):c.1794G>A (p.E598=), HDAC4(NM_006037.4):c.1794G>A (p.E598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239111695C>T" "" "likely benign" "" "0000288976" "0" "30" "2" "240033319" "240033319" "subst" "0.000334293" "01943" "HDAC4_000015" "g.240033319G>A" "" "" "" "HDAC4(NM_006037.3):c.1866C>T (p.G622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239111623G>A" "" "likely benign" "" "0000288977" "0" "30" "2" "240029738" "240029738" "subst" "0" "01943" "HDAC4_000013" "g.240029738G>A" "" "" "" "HDAC4(NM_006037.3):c.2097+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239108042G>A" "" "likely benign" "" "0000288978" "0" "30" "2" "240078400" "240078400" "subst" "0.000576608" "01943" "HDAC4_000022" "g.240078400G>A" "" "" "" "HDAC4(NM_006037.3):c.681C>T (p.H227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239156704G>A" "" "likely benign" "" "0000288979" "0" "30" "2" "240078397" "240078397" "subst" "0.00157958" "01943" "HDAC4_000021" "g.240078397C>T" "" "" "" "HDAC4(NM_006037.3):c.684G>A (p.P228=), HDAC4(NM_006037.4):c.684G>A (p.P228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239156701C>T" "" "likely benign" "" "0000288980" "0" "30" "2" "240061404" "240061404" "subst" "8.14505E-6" "01943" "HDAC4_000018" "g.240061404G>A" "" "" "" "HDAC4(NM_006037.3):c.954C>T (p.P318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239139708G>A" "" "likely benign" "" "0000328235" "0" "30" "2" "240029874" "240029874" "subst" "2.69925E-5" "01804" "HDAC4_000014" "g.240029874C>T" "" "" "" "HDAC4(NM_001378414.1):c.1984G>A (p.(Val662Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239108178C>T" "" "likely benign" "" "0000328236" "0" "50" "2" "240061430" "240061430" "subst" "9.76729E-5" "01804" "HDAC4_000019" "g.240061430C>T" "" "" "" "HDAC4(NM_006037.3):c.928G>A (p.(Val310Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239139734C>T" "" "VUS" "" "0000337587" "0" "10" "2" "240002771" "240002771" "subst" "0.00908174" "02327" "HDAC4_000007" "g.240002771T>G" "" "" "" "HDAC4(NM_006037.4):c.2735+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239081075T>G" "" "benign" "" "0000337588" "0" "10" "2" "240055931" "240055931" "subst" "0.0309733" "02327" "HDAC4_000028" "g.240055931T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239134235T>C" "" "benign" "" "0000337589" "0" "10" "2" "240078488" "240078488" "subst" "0.0901278" "02327" "HDAC4_000030" "g.240078488C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239156792C>G" "" "benign" "" "0000337590" "0" "10" "2" "240111521" "240111521" "subst" "0.085498" "02327" "HDAC4_000031" "g.240111521C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239189825C>T" "" "benign" "" "0000337591" "0" "10" "2" "240111790" "240111790" "subst" "0.00943037" "02327" "HDAC4_000033" "g.240111790C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239190094C>A" "" "benign" "" "0000337593" "0" "10" "2" "240274365" "240274365" "subst" "0.00852573" "02327" "HDAC4_000034" "g.240274365G>A" "" "" "" "HDAC4(NM_006037.3):c.22+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239352670G>A" "" "benign" "" "0000337594" "0" "50" "2" "240274399" "240274399" "subst" "0" "02327" "HDAC4_000035" "g.240274399A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239352704A>T" "" "VUS" "" "0000339141" "0" "50" "2" "239990268" "239990268" "subst" "0" "02327" "HDAC4_000024" "g.239990268G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239068572G>A" "" "VUS" "" "0000339744" "0" "10" "2" "240011717" "240011717" "subst" "0.0501186" "02327" "HDAC4_000025" "g.240011717T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239090021T>C" "" "benign" "" "0000339745" "0" "10" "2" "240036959" "240036959" "subst" "0.0366929" "02327" "HDAC4_000027" "g.240036959C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239115263C>T" "" "benign" "" "0000339746" "0" "10" "2" "240111556" "240111556" "subst" "0.0121733" "02327" "HDAC4_000032" "g.240111556G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239189860G>A" "" "benign" "" "0000341594" "0" "50" "2" "240011722" "240011722" "subst" "0.00144219" "02327" "HDAC4_000009" "g.240011722C>T" "" "" "" "HDAC4(NM_006037.3):c.2356G>A (p.(Ala786Thr)), HDAC4(NM_006037.4):c.2356G>A (p.A786T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239090026C>T" "" "VUS" "" "0000344805" "0" "90" "2" "240056091" "240056091" "subst" "0" "02327" "HDAC4_000029" "g.240056091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239134395G>A" "" "pathogenic" "" "0000348593" "0" "10" "2" "240003870" "240003870" "subst" "0.536255" "02327" "HDAC4_000008" "g.240003870G>A" "" "" "" "HDAC4(NM_006037.4):c.2565C>T (p.P855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239082174G>A" "" "benign" "" "0000351066" "0" "10" "2" "240016771" "240016771" "subst" "0.15384" "02327" "HDAC4_000011" "g.240016771C>T" "" "" "" "HDAC4(NM_006037.4):c.2219-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239095075C>T" "" "benign" "" "0000351067" "0" "10" "2" "240029736" "240029736" "subst" "0.836757" "02327" "HDAC4_000012" "g.240029736T>C" "" "" "" "HDAC4(NM_006037.4):c.2097+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239108040T>C" "" "benign" "" "0000351068" "0" "10" "2" "240066417" "240066417" "subst" "0.850769" "02327" "HDAC4_000020" "g.240066417A>G" "" "" "" "HDAC4(NM_006037.4):c.734-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239144721A>G" "" "benign" "" "0000351069" "0" "10" "2" "240274625" "240274625" "subst" "0" "02327" "HDAC4_000036" "g.240274625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.239352930G>A" "" "benign" "" "0000515276" "0" "30" "2" "239990278" "239990278" "subst" "3.65931E-5" "02325" "HDAC4_000037" "g.239990278C>T" "" "" "" "HDAC4(NM_001378414.1):c.2776G>A (p.(Glu926Lys)), HDAC4(NM_006037.4):c.2761G>A (p.E921K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239068582C>T" "" "likely benign" "" "0000515277" "0" "30" "2" "240002814" "240002814" "subst" "4.52429E-5" "01943" "HDAC4_000038" "g.240002814G>A" "" "" "" "HDAC4(NM_006037.3):c.2712C>T (p.D904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239081118G>A" "" "likely benign" "" "0000515279" "0" "30" "2" "240005942" "240005942" "subst" "0.000126606" "01804" "HDAC4_000040" "g.240005942C>T" "" "" "" "HDAC4(NM_006037.3):c.2430-4G>A (p.?), HDAC4(NM_006037.4):c.2430-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239084246C>T" "" "likely benign" "" "0000515280" "0" "30" "2" "240029885" "240029885" "subst" "0.000453262" "01804" "HDAC4_000041" "g.240029885G>A" "" "" "" "HDAC4(NM_006037.3):c.1964-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239108189G>A" "" "likely benign" "" "0000515281" "0" "30" "2" "240036742" "240036742" "subst" "0.00229133" "01804" "HDAC4_000042" "g.240036742C>T" "" "" "" "HDAC4(NM_006037.3):c.1776+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239115046C>T" "" "likely benign" "" "0000515282" "0" "50" "2" "240036921" "240036921" "subst" "0" "01804" "HDAC4_000043" "g.240036921A>G" "" "" "" "HDAC4(NM_001378414.1):c.1619T>C (p.(Leu535Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239115225A>G" "" "VUS" "" "0000515283" "0" "50" "2" "240055974" "240055974" "subst" "0" "02327" "HDAC4_000044" "g.240055974C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239134278C>A" "" "VUS" "" "0000515284" "0" "30" "2" "240056097" "240056097" "subst" "3.2865E-5" "01804" "HDAC4_000045" "g.240056097C>T" "" "" "" "HDAC4(NM_006037.3):c.1138G>A (p.(Ala380Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239134401C>T" "" "likely benign" "" "0000515285" "0" "30" "2" "240061400" "240061400" "subst" "0.00306756" "01804" "HDAC4_000017" "g.240061400C>T" "" "" "" "HDAC4(NM_006037.3):c.958G>A (p.(Val320Ile)), HDAC4(NM_006037.4):c.958G>A (p.V320I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239139704C>T" "" "likely benign" "" "0000515286" "0" "30" "2" "240111777" "240111777" "subst" "0" "01943" "HDAC4_000046" "g.240111777T>C" "" "" "" "HDAC4(NM_006037.3):c.95-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239190081T>C" "" "likely benign" "" "0000607841" "0" "30" "2" "239976508" "239976508" "subst" "0.000170545" "01804" "HDAC4_000047" "g.239976508C>T" "" "" "" "HDAC4(NM_006037.3):c.3010G>A (p.(Val1004Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239054812C>T" "" "likely benign" "" "0000607842" "0" "30" "2" "240011722" "240011722" "subst" "0.00144219" "01804" "HDAC4_000009" "g.240011722C>T" "" "" "" "HDAC4(NM_006037.3):c.2356G>A (p.(Ala786Thr)), HDAC4(NM_006037.4):c.2356G>A (p.A786T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239090026C>T" "" "likely benign" "" "0000607843" "0" "30" "2" "240056228" "240056228" "subst" "0" "01943" "HDAC4_000049" "g.240056228A>T" "" "" "" "HDAC4(NM_006037.3):c.1090T>A (p.S364T, p.(Ser364Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239134532A>T" "" "likely benign" "" "0000607844" "0" "30" "2" "240061403" "240061403" "subst" "0.00375566" "01804" "HDAC4_000050" "g.240061403C>T" "" "" "" "HDAC4(NM_006037.3):c.955G>A (p.(Ala319Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239139707C>T" "" "likely benign" "" "0000620999" "0" "30" "2" "240024554" "240024554" "subst" "0.000390985" "01943" "HDAC4_000048" "g.240024554C>T" "" "" "" "HDAC4(NM_006037.3):c.2136G>A (p.Q712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239102858C>T" "" "likely benign" "" "0000650515" "1" "10" "2" "240011722" "240011722" "subst" "0.00144219" "03575" "HDAC4_000009" "g.240011722C>T" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61754648}" "Germline" "" "rs61754648" "0" "" "" "g.239090026C>T" "" "benign" "" "0000654599" "0" "30" "2" "240005942" "240005942" "subst" "0.000126606" "02325" "HDAC4_000040" "g.240005942C>T" "" "" "" "HDAC4(NM_006037.3):c.2430-4G>A (p.?), HDAC4(NM_006037.4):c.2430-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239084246C>T" "" "likely benign" "" "0000654602" "0" "30" "2" "240085543" "240085543" "subst" "0.000743093" "01943" "HDAC4_000052" "g.240085543C>T" "" "" "" "HDAC4(NM_006037.3):c.567G>A (p.R189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.239163847C>T" "" "likely benign" "" "0000688713" "0" "30" "2" "240009245" "240009245" "subst" "7.44885E-5" "01943" "HDAC4_000053" "g.240009245G>A" "" "" "" "HDAC4(NM_006037.3):c.2429+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698353" "0" "90" "2" "240078358" "240078359" "del" "0" "00006" "HDAC4_000054" "g.240078358_240078359del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.239156662_239156663del" "" "pathogenic" "ACMG" "0000718666" "0" "50" "2" "239976475" "239976475" "subst" "0.000255817" "02325" "HDAC4_000055" "g.239976475G>A" "" "" "" "HDAC4(NM_006037.3):c.3043C>T (p.R1015C, p.(Arg1015Cys)), HDAC4(NM_006037.4):c.3043C>T (p.R1015C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718667" "0" "30" "2" "240036743" "240036743" "subst" "2.49213E-5" "01943" "HDAC4_000056" "g.240036743G>A" "" "" "" "HDAC4(NM_006037.3):c.1776+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718668" "0" "30" "2" "240085555" "240085555" "subst" "8.12123E-6" "01943" "HDAC4_000057" "g.240085555C>T" "" "" "" "HDAC4(NM_006037.3):c.555G>A (p.A185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800514" "0" "50" "2" "239976475" "239976475" "subst" "0.000255817" "01943" "HDAC4_000055" "g.239976475G>A" "" "" "" "HDAC4(NM_006037.3):c.3043C>T (p.R1015C, p.(Arg1015Cys)), HDAC4(NM_006037.4):c.3043C>T (p.R1015C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800515" "0" "30" "2" "240274365" "240274365" "subst" "0.00852573" "01804" "HDAC4_000034" "g.240274365G>A" "" "" "" "HDAC4(NM_006037.3):c.22+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849810" "0" "30" "2" "240003900" "240003900" "subst" "2.84257E-5" "01943" "HDAC4_000059" "g.240003900G>A" "" "" "" "HDAC4(NM_006037.3):c.2535C>T (p.N845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849811" "0" "30" "2" "240029875" "240029875" "subst" "0.00024038" "01943" "HDAC4_000061" "g.240029875G>A" "" "" "" "HDAC4(NM_006037.3):c.1968C>T (p.L656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849812" "0" "30" "2" "240036855" "240036855" "subst" "0" "01804" "HDAC4_000062" "g.240036855T>G" "" "" "" "HDAC4(NM_006037.3):c.1670A>C (p.(Gln557Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858449" "0" "30" "2" "240002886" "240002886" "subst" "0" "01804" "HDAC4_000058" "g.240002886C>A" "" "" "" "HDAC4(NM_006037.3):c.2640G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858450" "0" "30" "2" "240005877" "240005877" "subst" "0.000764764" "01804" "HDAC4_000060" "g.240005877C>T" "" "" "" "HDAC4(NM_006037.3):c.2491G>A (p.(Val831Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858451" "0" "30" "2" "240048360" "240048360" "subst" "0" "01943" "HDAC4_000063" "g.240048360G>A" "" "" "" "HDAC4(NM_006037.3):c.1310C>T (p.P437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885055" "0" "30" "2" "239976475" "239976475" "subst" "0.000255817" "01804" "HDAC4_000055" "g.239976475G>A" "" "" "" "HDAC4(NM_006037.3):c.3043C>T (p.R1015C, p.(Arg1015Cys)), HDAC4(NM_006037.4):c.3043C>T (p.R1015C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885056" "0" "50" "2" "240048300" "240048300" "subst" "2.4473E-5" "02325" "HDAC4_000064" "g.240048300C>T" "" "" "" "HDAC4(NM_006037.4):c.1370G>A (p.R457Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885057" "0" "30" "2" "240056115" "240056115" "subst" "0.000615504" "01804" "HDAC4_000065" "g.240056115C>T" "" "" "" "HDAC4(NM_006037.3):c.1120G>A (p.(Glu374Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885058" "0" "30" "2" "240085544" "240085544" "subst" "7.30911E-5" "02325" "HDAC4_000066" "g.240085544C>T" "" "" "" "HDAC4(NM_006037.4):c.566G>A (p.R189Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923663" "0" "30" "2" "240055953" "240055953" "subst" "0.000155923" "02325" "HDAC4_000067" "g.240055953G>T" "" "" "" "HDAC4(NM_001378414.1):c.1282C>A (p.(Pro428Thr)), HDAC4(NM_006037.4):c.1282C>A (p.P428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923664" "0" "30" "2" "240078473" "240078475" "del" "0" "01804" "HDAC4_000068" "g.240078473_240078475del" "" "" "" "HDAC4(NM_006037.3):c.612-5_612-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947805" "0" "30" "2" "240056228" "240056228" "subst" "0" "01804" "HDAC4_000049" "g.240056228A>T" "" "" "" "HDAC4(NM_006037.3):c.1090T>A (p.S364T, p.(Ser364Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962001" "0" "50" "2" "240029881" "240029881" "subst" "0" "02327" "HDAC4_000069" "g.240029881T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962003" "0" "30" "2" "240036805" "240036805" "subst" "0.000168095" "01804" "HDAC4_000070" "g.240036805G>A" "" "" "" "HDAC4(NM_006037.3):c.1720C>T (p.(Arg574Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975117" "0" "50" "2" "239988500" "239988500" "subst" "2.44507E-5" "01804" "HDAC4_000071" "g.239988500A>G" "" "" "" "HDAC4(NM_001378414.1):c.2921T>C (p.(Val974Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975118" "0" "50" "2" "240002860" "240002860" "subst" "0" "01804" "HDAC4_000072" "g.240002860T>C" "" "" "" "HDAC4(NM_001378414.1):c.2681A>G (p.(Asn894Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975119" "0" "50" "2" "240061496" "240061496" "subst" "0.000151112" "01804" "HDAC4_000073" "g.240061496C>T" "" "" "" "HDAC4(NM_001378414.1):c.866-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975120" "0" "50" "2" "240066815" "240066815" "subst" "0" "01804" "HDAC4_000074" "g.240066815C>A" "" "" "" "HDAC4(NM_001378414.1):c.734-405G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975121" "0" "30" "2" "240103102" "240103102" "subst" "0" "01804" "HDAC4_000075" "g.240103102G>A" "" "" "" "HDAC4(NM_001378414.1):c.340-4843C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975122" "0" "30" "2" "240154382" "240154382" "del" "0" "01804" "HDAC4_000076" "g.240154382del" "" "" "" "HDAC4(NM_001378414.1):c.94+3910del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975123" "0" "30" "2" "240195816" "240195816" "subst" "0" "01804" "HDAC4_000077" "g.240195816C>A" "" "" "" "HDAC4(NM_001378414.1):c.23-37456G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992714" "0" "30" "2" "239975285" "239975285" "subst" "4.89253E-5" "01804" "HDAC4_000078" "g.239975285C>T" "" "" "" "HDAC4(NM_006037.3):c.3086G>A (p.(Arg1029His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992715" "0" "50" "2" "240002848" "240002848" "subst" "0" "01804" "HDAC4_000079" "g.240002848G>C" "" "" "" "HDAC4(NM_006037.3):c.2678C>G (p.(Ala893Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992716" "0" "30" "2" "240029790" "240029790" "subst" "0" "01804" "HDAC4_000080" "g.240029790T>C" "" "" "" "HDAC4(NM_006037.3):c.2053A>G (p.(Ile685Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992717" "0" "50" "2" "240033330" "240033330" "subst" "0" "01804" "HDAC4_000081" "g.240033330C>T" "" "" "" "HDAC4(NM_006037.3):c.1855G>A (p.(Val619Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992718" "0" "50" "2" "240055953" "240055953" "subst" "0.000155923" "01804" "HDAC4_000067" "g.240055953G>T" "" "" "" "HDAC4(NM_001378414.1):c.1282C>A (p.(Pro428Thr)), HDAC4(NM_006037.4):c.1282C>A (p.P428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992719" "0" "50" "2" "240056311" "240056311" "subst" "3.24886E-5" "01804" "HDAC4_000082" "g.240056311C>T" "" "" "" "HDAC4(NM_006037.3):c.1007G>A (p.(Arg336Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992720" "0" "30" "2" "240111734" "240111734" "subst" "1.28328E-5" "01804" "HDAC4_000083" "g.240111734G>A" "" "" "" "HDAC4(NM_006037.3):c.134C>T (p.(Ser45Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013698" "0" "90" "2" "240066401" "240066401" "subst" "0" "02329" "HDAC4_000084" "g.240066401G>A" "" "" "" "HDAC4(NM_006037.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033160" "0" "50" "2" "239990185" "239990185" "subst" "0" "01804" "HDAC4_000085" "g.239990185A>G" "" "" "" "HDAC4(NM_001378414.1):c.2869T>C (p.(Cys957Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033161" "0" "30" "2" "240006170" "240006171" "ins" "0" "01804" "HDAC4_000086" "g.240006170_240006171insCC" "" "" "" "HDAC4(NM_001378414.1):c.2445-232_2445-231insGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033162" "0" "30" "2" "240006231" "240006231" "subst" "0" "01804" "HDAC4_000087" "g.240006231C>T" "" "" "" "HDAC4(NM_001378414.1):c.2445-293G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033163" "0" "30" "2" "240036635" "240036635" "subst" "0" "01804" "HDAC4_000088" "g.240036635A>G" "" "" "" "HDAC4(NM_001378414.1):c.1791+114T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033164" "0" "30" "2" "240037011" "240037011" "subst" "0" "01804" "HDAC4_000089" "g.240037011A>G" "" "" "" "HDAC4(NM_001378414.1):c.1534-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033165" "0" "50" "2" "240048264" "240048264" "subst" "0" "01804" "HDAC4_000090" "g.240048264G>A" "" "" "" "HDAC4(NM_001378414.1):c.1421C>T (p.(Pro474Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033166" "0" "50" "2" "240056291" "240056291" "subst" "0" "01804" "HDAC4_000091" "g.240056291G>T" "" "" "" "HDAC4(NM_001378414.1):c.1027C>A (p.(Leu343Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033167" "0" "30" "2" "240066739" "240066739" "subst" "0" "01804" "HDAC4_000092" "g.240066739G>A" "" "" "" "HDAC4(NM_001378414.1):c.734-329C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033168" "0" "50" "2" "240098186" "240098186" "subst" "0" "01804" "HDAC4_000093" "g.240098186C>A" "" "" "" "HDAC4(NM_001378414.1):c.413G>T (p.(Arg138Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033169" "0" "30" "2" "240121714" "240121714" "subst" "0" "01804" "HDAC4_000094" "g.240121714G>A" "" "" "" "HDAC4(NM_001378414.1):c.95-9941C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033170" "0" "30" "2" "240270173" "240270173" "subst" "0" "01804" "HDAC4_000095" "g.240270173C>T" "" "" "" "HDAC4(NM_001378414.1):c.22+4200G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051161" "0" "30" "2" "239990278" "239990278" "subst" "3.65931E-5" "01804" "HDAC4_000037" "g.239990278C>T" "" "" "" "HDAC4(NM_001378414.1):c.2776G>A (p.(Glu926Lys)), HDAC4(NM_006037.4):c.2761G>A (p.E921K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051162" "0" "50" "2" "240036951" "240036951" "subst" "1.64254E-5" "01804" "HDAC4_000096" "g.240036951G>A" "" "" "" "HDAC4(NM_001378414.1):c.1589C>T (p.(Thr530Met))" "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 HDAC4 ## Count = 112 "{{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}}" "0000011768" "00001434" "50" "94" "12011" "94" "12011" "c.94+12011C>T" "r.(=)" "p.(=)" "" "0000079532" "00001434" "00" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0000130328" "00001434" "70" "2399" "0" "2399" "0" "c.2399dup" "r.(?)" "p.(Gly801Trpfs*78)" "19" "0000130329" "00001434" "50" "490" "56" "490" "120" "c.490+56_490+120del" "r.spl" "p.(=)" "5i" "0000162896" "00001434" "70" "480" "0" "480" "0" "c.480G>T" "r.(?)" "p.(Lys160Asn)" "5" "0000249002" "00001434" "10" "734" "-7" "734" "-7" "c.734-7T>C" "r.(=)" "p.(=)" "" "0000281261" "00001434" "50" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Arg52His)" "" "0000281262" "00001434" "30" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Glu598=)" "" "0000281263" "00001434" "10" "2097" "10" "2097" "10" "c.2097+10A>G" "r.(=)" "p.(=)" "" "0000281264" "00001434" "10" "2219" "-19" "2219" "-19" "c.2219-19G>A" "r.(=)" "p.(=)" "" "0000281265" "00001434" "30" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Val745Met)" "" "0000281266" "00001434" "30" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Ala786Thr)" "" "0000281267" "00001434" "10" "2565" "0" "2565" "0" "c.2565C>T" "r.(?)" "p.(Pro855=)" "" "0000281268" "00001434" "30" "2735" "20" "2735" "20" "c.2735+20A>C" "r.(=)" "p.(=)" "" "0000281269" "00001434" "30" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Pro228=)" "" "0000281270" "00001434" "30" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Ile)" "" "0000283407" "00001434" "50" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Ala980Thr)" "" "0000288974" "00001434" "50" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Arg52His)" "" "0000288975" "00001434" "30" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Glu598=)" "" "0000288976" "00001434" "30" "1866" "0" "1866" "0" "c.1866C>T" "r.(?)" "p.(Gly622=)" "" "0000288977" "00001434" "30" "2097" "8" "2097" "8" "c.2097+8C>T" "r.(=)" "p.(=)" "" "0000288978" "00001434" "30" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(His227=)" "" "0000288979" "00001434" "30" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Pro228=)" "" "0000288980" "00001434" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Pro318=)" "" "0000328235" "00001434" "30" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Val657Met)" "" "0000328236" "00001434" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Ile)" "" "0000337587" "00001434" "10" "2735" "20" "2735" "20" "c.2735+20A>C" "r.(=)" "p.(=)" "" "0000337588" "00001434" "10" "1294" "10" "1294" "10" "c.1294+10A>G" "r.(=)" "p.(=)" "" "0000337589" "00001434" "10" "612" "-19" "612" "-19" "c.612-19G>C" "r.(=)" "p.(=)" "" "0000337590" "00001434" "10" "339" "8" "339" "8" "c.339+8G>A" "r.(=)" "p.(=)" "" "0000337591" "00001434" "10" "95" "-17" "95" "-17" "c.95-17G>T" "r.(=)" "p.(=)" "" "0000337593" "00001434" "10" "22" "8" "22" "8" "c.22+8C>T" "r.(=)" "p.(=)" "" "0000337594" "00001434" "50" "-5" "0" "-5" "0" "c.-5T>A" "r.(?)" "p.(=)" "" "0000339141" "00001434" "50" "2771" "0" "2771" "0" "c.2771C>T" "r.(?)" "p.(Pro924Leu)" "" "0000339744" "00001434" "10" "2361" "0" "2361" "0" "c.2361A>G" "r.(?)" "p.(Thr787=)" "" "0000339745" "00001434" "10" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Pro522=)" "" "0000339746" "00001434" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(His104=)" "" "0000341594" "00001434" "50" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Ala786Thr)" "" "0000344805" "00001434" "90" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Gln382Ter)" "" "0000348593" "00001434" "10" "2565" "0" "2565" "0" "c.2565C>T" "r.(?)" "p.(Pro855=)" "" "0000351066" "00001434" "10" "2219" "-19" "2219" "-19" "c.2219-19G>A" "r.(=)" "p.(=)" "" "0000351067" "00001434" "10" "2097" "10" "2097" "10" "c.2097+10A>G" "r.(=)" "p.(=)" "" "0000351068" "00001434" "10" "734" "-7" "734" "-7" "c.734-7T>C" "r.(=)" "p.(=)" "" "0000351069" "00001434" "10" "-219" "-12" "-219" "-12" "c.-219-12C>T" "r.(=)" "p.(=)" "" "0000515276" "00001434" "30" "2761" "0" "2761" "0" "c.2761G>A" "r.(?)" "p.(Glu921Lys)" "" "0000515277" "00001434" "30" "2712" "0" "2712" "0" "c.2712C>T" "r.(?)" "p.(Asp904=)" "" "0000515279" "00001434" "30" "2430" "-4" "2430" "-4" "c.2430-4G>A" "r.spl?" "p.?" "" "0000515280" "00001434" "30" "1964" "-6" "1964" "-6" "c.1964-6C>T" "r.(=)" "p.(=)" "" "0000515281" "00001434" "30" "1776" "7" "1776" "7" "c.1776+7G>A" "r.(=)" "p.(=)" "" "0000515282" "00001434" "50" "1604" "0" "1604" "0" "c.1604T>C" "r.(?)" "p.(Leu535Pro)" "" "0000515283" "00001434" "50" "1261" "0" "1261" "0" "c.1261G>T" "r.(?)" "p.(Glu421Ter)" "" "0000515284" "00001434" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000515285" "00001434" "30" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Ile)" "" "0000515286" "00001434" "30" "95" "-4" "95" "-4" "c.95-4A>G" "r.spl?" "p.?" "" "0000607841" "00001434" "30" "3010" "0" "3010" "0" "c.3010G>A" "r.(?)" "p.(Val1004Ile)" "" "0000607842" "00001434" "30" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Ala786Thr)" "" "0000607843" "00001434" "30" "1090" "0" "1090" "0" "c.1090T>A" "r.(?)" "p.(Ser364Thr)" "" "0000607844" "00001434" "30" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "" "0000620999" "00001434" "30" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(Gln712=)" "" "0000650515" "00001434" "10" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Ala786Thr)" "" "0000654599" "00001434" "30" "2430" "-4" "2430" "-4" "c.2430-4G>A" "r.spl?" "p.?" "" "0000654602" "00001434" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Arg189=)" "" "0000688713" "00001434" "30" "2429" "10" "2429" "10" "c.2429+10C>T" "r.(=)" "p.(=)" "" "0000698353" "00001434" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Leu241Glnfs* 6)" "7" "0000718666" "00001434" "50" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(Arg1015Cys)" "" "0000718667" "00001434" "30" "1776" "6" "1776" "6" "c.1776+6C>T" "r.(=)" "p.(=)" "" "0000718668" "00001434" "30" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Ala185=)" "" "0000800514" "00001434" "50" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(Arg1015Cys)" "" "0000800515" "00001434" "30" "22" "8" "22" "8" "c.22+8C>T" "r.(=)" "p.(=)" "" "0000849810" "00001434" "30" "2535" "0" "2535" "0" "c.2535C>T" "r.(?)" "p.(Asn845=)" "" "0000849811" "00001434" "30" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Leu656=)" "" "0000849812" "00001434" "30" "1670" "0" "1670" "0" "c.1670A>C" "r.(?)" "p.(Gln557Pro)" "" "0000858449" "00001434" "30" "2640" "0" "2640" "0" "c.2640G>T" "r.(?)" "p.(Val880=)" "" "0000858450" "00001434" "30" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Met)" "" "0000858451" "00001434" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "" "0000885055" "00001434" "30" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(Arg1015Cys)" "" "0000885056" "00001434" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Arg457Gln)" "" "0000885057" "00001434" "30" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Glu374Lys)" "" "0000885058" "00001434" "30" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Gln)" "" "0000923663" "00001434" "30" "1282" "0" "1282" "0" "c.1282C>A" "r.(?)" "p.(Pro428Thr)" "" "0000923664" "00001434" "30" "612" "-5" "612" "-3" "c.612-5_612-3del" "r.spl?" "p.?" "" "0000947805" "00001434" "30" "1090" "0" "1090" "0" "c.1090T>A" "r.(?)" "p.(Ser364Thr)" "" "0000962001" "00001434" "50" "1964" "-2" "1964" "-2" "c.1964-2A>G" "r.spl?" "p.?" "" "0000962003" "00001434" "30" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Arg574Trp)" "" "0000975117" "00001434" "50" "2906" "0" "2906" "0" "c.2906T>C" "r.(?)" "p.(Val969Ala)" "" "0000975118" "00001434" "50" "2666" "0" "2666" "0" "c.2666A>G" "r.(?)" "p.(Asn889Ser)" "" "0000975119" "00001434" "50" "866" "-4" "866" "-4" "c.866-4G>A" "r.spl?" "p.?" "" "0000975120" "00001434" "50" "734" "-405" "734" "-405" "c.734-405G>T" "r.(=)" "p.(=)" "" "0000975121" "00001434" "30" "340" "-4843" "340" "-4843" "c.340-4843C>T" "r.(=)" "p.(=)" "" "0000975122" "00001434" "30" "94" "3910" "94" "3910" "c.94+3910del" "r.(=)" "p.(=)" "" "0000975123" "00001434" "30" "23" "-37456" "23" "-37456" "c.23-37456G>T" "r.(=)" "p.(=)" "" "0000992714" "00001434" "30" "3086" "0" "3086" "0" "c.3086G>A" "r.(?)" "p.(Arg1029His)" "" "0000992715" "00001434" "50" "2678" "0" "2678" "0" "c.2678C>G" "r.(?)" "p.(Ala893Gly)" "" "0000992716" "00001434" "30" "2053" "0" "2053" "0" "c.2053A>G" "r.(?)" "p.(Ile685Val)" "" "0000992717" "00001434" "50" "1855" "0" "1855" "0" "c.1855G>A" "r.(?)" "p.(Val619Met)" "" "0000992718" "00001434" "50" "1282" "0" "1282" "0" "c.1282C>A" "r.(?)" "p.(Pro428Thr)" "" "0000992719" "00001434" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "0000992720" "00001434" "30" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Leu)" "" "0001013698" "00001434" "90" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "" "0001033160" "00001434" "50" "2854" "0" "2854" "0" "c.2854T>C" "r.(?)" "p.(Cys952Arg)" "" "0001033161" "00001434" "30" "2430" "-232" "2430" "-231" "c.2430-232_2430-231insGG" "r.(=)" "p.(=)" "" "0001033162" "00001434" "30" "2430" "-293" "2430" "-293" "c.2430-293G>A" "r.(=)" "p.(=)" "" "0001033163" "00001434" "30" "1776" "114" "1776" "114" "c.1776+114T>C" "r.(=)" "p.(=)" "" "0001033164" "00001434" "30" "1519" "-5" "1519" "-5" "c.1519-5T>C" "r.spl?" "p.?" "" "0001033165" "00001434" "50" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "" "0001033166" "00001434" "50" "1027" "0" "1027" "0" "c.1027C>A" "r.(?)" "p.(Leu343Ile)" "" "0001033167" "00001434" "30" "734" "-329" "734" "-329" "c.734-329C>T" "r.(=)" "p.(=)" "" "0001033168" "00001434" "50" "413" "0" "413" "0" "c.413G>T" "r.(?)" "p.(Arg138Leu)" "" "0001033169" "00001434" "30" "95" "-9941" "95" "-9941" "c.95-9941C>T" "r.(=)" "p.(=)" "" "0001033170" "00001434" "30" "22" "4200" "22" "4200" "c.22+4200G>A" "r.(=)" "p.(=)" "" "0001051161" "00001434" "30" "2761" "0" "2761" "0" "c.2761G>A" "r.(?)" "p.(Glu921Lys)" "" "0001051162" "00001434" "50" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Thr525Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011768" "0000050552" "0000079532" "0000081239" "0000130328" "0000081240" "0000130329" "0000100595" "0000162896" "0000293826" "0000650515" "0000316203" "0000698353"