### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HDAC3) # 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}}" "HDAC3" "histone deacetylase 3" "5" "q31.1-q31.2" "unknown" "NC_000005.9" "UD_132118308204" "" "https://www.LOVD.nl/HDAC3" "" "1" "4854" "8841" "605166" "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/HDAC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-08-10 15:17:34" "00006" "2024-08-12 19:44:07" ## 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}}" "00009214" "HDAC3" "histone deacetylase 3" "001" "NM_003883.3" "" "NP_003874.2" "" "" "" "-66" "1879" "1287" "141016423" "141000443" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "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" "07097" "HDAC3-NDD" "HDAC3-related NDD" "IC" "" "" "intellectual disability (HP:0001249),neurodevelopmental delay (HP:0012758), abnormality of the musculoskele tal system (HP:0033127), seizure (HP:0001250), abnormal facial shape (HP:0001999), brain imaging abnormality (HP:0410263), abnormality of the genitourinary system (HP:0000119), microcephaly (HP:0000252), hearing impairment (HP:0000365), failure to thrive (HP:0001508), abnormal heart morphology (HP:0001627), autistic behavior (HP:0000729)" "" "00006" "2024-08-10 15:25:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HDAC3" "05611" "HDAC3" "07097" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00303072" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat114" "00452992" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "Asia" "Pat1" "00452993" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "Asia" "Pat2" "00452994" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "Pat3" "00452995" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "Pat4" "00452996" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "Pat5" "00452997" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe" "Pat6" "00453000" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-4681" "00453001" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-307291" "00453002" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "Europe" "DECIPHER-253734" "00453003" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-264075" "00453004" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-249028" "00453005" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-293879" "00453006" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-401315" "00453007" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "" "" "" "0" "" "" "Europe" "DECIPHER-345239" "00453008" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-473002" "00453009" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-255372" "00453010" "" "" "" "1" "" "00006" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "DECIPHER-261240" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00303072" "05521" "00452992" "05611" "00452993" "05611" "00452994" "05611" "00452995" "05611" "00452996" "05611" "00452997" "05611" "00453000" "05611" "00453001" "05611" "00453002" "05611" "00453003" "05611" "00453004" "05611" "00453005" "05611" "00453006" "05611" "00453007" "05611" "00453008" "05611" "00453009" "05611" "00453010" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05521, 05611, 07097 ## Count = 19 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000230155" "05521" "00303072" "00006" "Isolated (sporadic)" "" "Neonatal Epileptic Encephalopathy; age onset neonatal" "" "" "" "" "" "" "" "" "" "seizures" "" "0000341638" "05611" "00452992" "00006" "Isolated (sporadic)" "25y" "birth full-term, cesarean delivery, weight 1.98 kg; severe intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); scoliosis, varus proximal tibia, hand joint deformity, musculoskeletal abnormalities (HP:0033127); seizure (HP:0001250); facial dysmorphism (HP:0001999); MRI brain normal (-HP:0410263); no abnormality genitourinary system (-HP:0000119); microcephaly (HP:0000252); sensorineural hearing impairment (HP:0000365); failure to thrive (HP:0001508); congenital heart disease (HP:0001627); autistic behavior (HP:0000729); microtia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341639" "05611" "00452993" "00006" "Isolated (sporadic)" "5y" "birth 36w, vaginal delivery, weight 2.10 kg; severe intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); polydactyly, syndactyly, musculoskeletal abnormalities (HP:0033127); no seizure (-HP:0001250); facial dysmorphism (HP:0001999); MRI brain normal (-HP:0410263); congenital hydronephrosis (HP:0000119); microcephaly (HP:0000252); no hearing impairment (-HP:0000365); failure to thrive (HP:0001508); congenital heart disease (HP:0001627); no autistic behavior (-HP:0000729)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341640" "05611" "00452994" "00006" "Isolated (sporadic)" "6y" "birth 40w, vaginal delivery, weight 3.30 kg; moderate intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); no musculoskeletal abnormalities (-HP:0033127); seizure (HP:0001250); no facial dysmorphism -(HP:0001999); MRI brain subcortical heterotopia (HP:0410263); phimosis (HP:0000119); no microcephaly (-HP:0000252); no hearing impairment (-HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); autistic behavior (HP:0000729)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341641" "05611" "00452995" "00006" "Isolated (sporadic)" "12y" "mild intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); ; joint hypermobility, musculoskeletal abnormalities (HP:0033127); no seizure (-HP:0001250); no facial dysmorphism -(HP:0001999); MRI brain focus of nodular heterotopia (HP:0410263); no abnormality genitourinary system (-HP:0000119); no microcephaly (-HP:0000252); no hearing impairment (-HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); no autistic behavior (-HP:0000729); subcutaneous scalp arteriovenous malformation" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341642" "05611" "00452996" "00006" "Isolated (sporadic)" "15y" "birth 35w, vaginal delivery (dizygotic twin), weight 2.04 kg; moderate intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); hand joint deformity, musculoskeletal abnormalities (HP:0033127); no seizure (-HP:0001250); facial dysmorphism (HP:0001999); MRI brain mildly dilated vestibular ducts (HP:0410263); congenital unilateral right hydronephrosis with vesicoureteral reflux (HP:0000119); no microcephaly (-HP:0000252); mixed type hearing impairment (HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); no autistic behavior (-HP:0000729); type 1 diabetes, chronic acral warts" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341643" "05611" "00452997" "00006" "Isolated (sporadic)" "12y" "birth full-term, vaginal delivery, weight 4.17 kg; no intellectual disability (-HP:0001249); no neurodevelopmental delay (-HP:0012758); neonatal torticollis, musculoskeletal abnormalities (HP:0033127); seizure (HP:0001250); no facial dysmorphism -(HP:0001999); MRI brain normal (-HP:0410263); no abnormality genitourinary system (-HP:0000119); no microcephaly (-HP:0000252); no hearing impairment (-HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); no autistic behavior (-HP:0000729)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341644" "05611" "00453000" "00006" "Isolated (sporadic)" "" "delayed speech and language development; feeding difficulties in infancy; hypotonia; intellectual disability; seizure" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341645" "05611" "00453001" "00006" "Isolated (sporadic)" "" "camptodactyly of finger; eczema; flexion contracture of toe; hypohidrosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341646" "05611" "00453002" "00006" "Isolated (sporadic)" "" "feeding difficulties in infancy; hypotonia; intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341647" "05611" "00453003" "00006" "Isolated (sporadic)" "" "abnormal plantar dermatoglyphics; broad face; lissencephaly; seizure" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341648" "05611" "00453004" "00006" "Isolated (sporadic)" "" "abnormality of the upper respiratory tract; coarse facial features; hypotonia; intellectual disability; patent ductus arteriosus" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341649" "05611" "00453005" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341650" "05611" "00453006" "00006" "Isolated (sporadic)" "" "abnormal pinna morphology; brachycephaly; constipation; deeply set eye; delayed speech and language development; diabetes mellitus; eeg abnormality; fine hair; gait disturbance; hypertelorism; intellectual disability; mandibular prognathia; precocious puberty in females; prominent nose; recurrent infections; scoliosis; short philtrum; strabismus; wide mouth" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341651" "05611" "00453007" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341652" "05611" "00453008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341653" "05611" "00453009" "00006" "Isolated (sporadic)" "" "2-3 toe syndactyly; inguinal hernia; intellectual disability; microcephaly; sacral dimple; seizure; short stature" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341654" "05611" "00453010" "00006" "Isolated (sporadic)" "" "intellectual disability; seizure" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000304197" "00303072" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000454602" "00452992" "1" "00006" "00006" "2024-08-10 16:01:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454603" "00452993" "1" "00006" "00006" "2024-08-10 16:01:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454604" "00452994" "1" "00006" "00006" "2024-08-10 16:01:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454605" "00452995" "1" "00006" "00006" "2024-08-10 16:01:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454606" "00452996" "1" "00006" "00006" "2024-08-10 16:01:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454607" "00452997" "1" "00006" "00006" "2024-08-10 16:01:26" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454610" "00453000" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454611" "00453001" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454612" "00453002" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454613" "00453003" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454614" "00453004" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454615" "00453005" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454616" "00453006" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454617" "00453007" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454618" "00453008" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454619" "00453009" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" "0000454620" "00453010" "1" "00006" "00006" "2024-08-12 19:43:45" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000304197" "HDAC3" "0000304197" "LPHN1" ## 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 = 24 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000330654" "0" "30" "5" "140998441" "140998441" "subst" "0" "01804" "DIAPH1_000019" "g.140998441G>A" "" "" "" "DIAPH1(NM_001079812.2):c.41C>T (p.(Thr14Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141618874G>A" "" "likely benign" "" "0000330655" "0" "30" "5" "141018591" "141018591" "subst" "0.000550823" "01804" "RELL2_000001" "g.141018591G>A" "" "" "" "RELL2(NM_001130029.1):c.317+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141639024G>A" "" "likely benign" "" "0000337208" "0" "10" "5" "140998351" "140998351" "subst" "0.0626322" "02327" "DIAPH1_000028" "g.140998351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141618784G>A" "" "benign" "" "0000524604" "0" "50" "5" "141014382" "141014382" "subst" "0" "01804" "HDAC3_000002" "g.141014382C>T" "" "" "" "HDAC3(NM_003883.3):c.277G>A (p.(Asp93Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141634815C>T" "" "VUS" "" "0000667610" "0" "70" "5" "141005779" "141005779" "subst" "0" "00006" "HDAC3_000001" "g.141005779C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.141626212C>T" "" "likely pathogenic (dominant)" "ACMG" "0000720229" "0" "50" "5" "140998447" "140998447" "subst" "0" "02327" "DIAPH1_000099" "g.140998447C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989477" "0" "70" "5" "141009646" "141009646" "subst" "0" "00006" "HDAC3_000007" "g.141009646C>T" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.141630079C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989478" "0" "70" "5" "141004917" "141004917" "subst" "8.13187E-6" "00006" "HDAC3_000003" "g.141004917G>A" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "ACMG PS2, PP2, PP3" "De novo" "" "" "0" "" "" "g.141625350G>A" "" "likely pathogenic (dominant)" "ACMG" "0000989479" "0" "70" "5" "141014382" "141014382" "subst" "0" "00006" "HDAC3_000002" "g.141014382C>T" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.141634815C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989480" "0" "70" "5" "141007493" "141007493" "subst" "0" "00006" "HDAC3_000005" "g.141007493A>G" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.141627926A>G" "" "likely pathogenic (dominant)" "ACMG" "0000989481" "0" "70" "5" "141007491" "141007491" "subst" "0" "00006" "HDAC3_000004" "g.141007491C>T" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.141627924C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989482" "0" "70" "5" "141008749" "141008749" "subst" "0" "00006" "HDAC3_000006" "g.141008749G>A" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.141629182G>A" "" "likely pathogenic (dominant)" "ACMG" "0000989489" "0" "70" "5" "139137246" "141702365" "del" "0" "00006" "HDAC3_000009" "g.(?_139137246)_(141702365_?)del" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 139757679-142322798" "2.57Mb deletion" "De novo" "" "" "0" "" "" "g.(?_139757679)_(142322798_?)del" "" "likely pathogenic (dominant)" "" "0000989490" "0" "70" "5" "140898370" "143853805" "del" "0" "00006" "HDAC3_000009" "g.(?_140898370)_(143853805_?)del" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 141518803-144474238" "2.96Mb deletion" "De novo" "" "" "0" "" "" "g.(?_141518803)_(144474238_?)del" "" "likely pathogenic (dominant)" "" "0000989491" "0" "70" "5" "137554767" "142594528" "del" "0" "00006" "HDAC3_000009" "g.(?_137554767)_(142594528_?)del" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 138175200-143214961" "5.04Mb deletion" "De novo" "" "" "0" "" "" "g.(?_138175200)_(143214961_?)del" "" "likely pathogenic (dominant)" "" "0000989492" "0" "70" "5" "138601427" "145132151" "del" "0" "00006" "HDAC3_000009" "g.(?_138601427)_(145132151_?)del" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 139221860-145752584" "6.53Mb deletion" "De novo" "" "" "0" "" "" "g.(?_139221860)_(145752584_?)del" "" "likely pathogenic (dominant)" "" "0000989493" "0" "70" "5" "138250704" "145191876" "del" "0" "00006" "HDAC3_000009" "g.(?_138250704)_(145191876_?)del" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 138871137-145812309" "6.94Mb deletion" "De novo" "" "" "0" "" "" "g.(?_138871137)_(145812309_?)del" "" "likely pathogenic (dominant)" "" "0000989494" "0" "70" "5" "140342766" "141403085" "dup" "0" "00006" "HDAC3_000008" "g.(?_140342766)_(141403085_?)dup" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 140963199-142023518" "1.06Mb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_140963199)_(142023518_?)dup" "" "likely pathogenic (dominant)" "" "0000989495" "0" "70" "5" "133990638" "143046454" "dup" "0" "00006" "HDAC3_000008" "g.(?_133990638)_(143046454_?)dup" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 134611071-143666887" "9.06Mb duplication" "De novo" "" "" "0" "" "" "g.(?_134611071)_(143666887_?)dup" "" "likely pathogenic (dominant)" "" "0000989496" "0" "70" "5" "138052973" "149510087" "dup" "0" "00006" "HDAC3_000008" "g.(?_138052973)_(149510087_?)dup" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 138673406-150130520" "11.46Mb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_138673406)_(150130520_?)dup" "" "likely pathogenic (dominant)" "" "0000989497" "0" "70" "5" "140132790" "156076574" "dup" "0" "00006" "HDAC3_000008" "g.(?_140132790)_(156076574_?)dup" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 140753223-156697007" "15.94Mb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_140753223)_(156697007_?)dup" "" "likely pathogenic (dominant)" "" "0000989498" "0" "70" "5" "131119795" "149047790" "dup" "0" "00006" "HDAC3_000008" "g.(?_131119795)_(149047790_?)dup" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 131740228-149668223" "17.93Mb duplication" "De novo" "" "" "0" "" "" "g.(?_131740228)_(149668223_?)dup" "" "likely pathogenic (dominant)" "" "0000989499" "0" "70" "5" "123895608" "148651715" "dup" "0" "00006" "HDAC3_000008" "g.(?_123895608)_(148651715_?)dup" "" "{PMID:Yoon 2024:39047730}, {DOI:Yoon 2024:10.1016/j.ajhg.2024.06.015}" "" "hg38 124516041-149272148" "24.76Mb duplication; mosaic" "De novo" "" "" "0" "" "" "g.(?_124516041)_(149272148_?)dup" "" "likely pathogenic (dominant)" "" ## 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 HDAC3 ## Count = 24 "{{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}}" "0000079500" "00009214" "00" "-4700928" "0" "8388607" "0" "c.-4700928_*17172511dup" "" "" "" "0000330654" "00009214" "30" "3881" "0" "3881" "0" "c.*2594C>T" "r.(=)" "p.(=)" "" "0000330655" "00009214" "30" "-2234" "0" "-2234" "0" "c.-2234C>T" "r.(?)" "p.(=)" "" "0000337208" "00009214" "10" "3971" "0" "3971" "0" "c.*2684C>T" "r.(=)" "p.(=)" "" "0000524604" "00009214" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Asp93Asn)" "" "0000667610" "00009214" "70" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "" "0000720229" "00009214" "50" "3875" "0" "3875" "0" "c.*2588G>A" "r.(=)" "p.(=)" "" "0000989477" "00009214" "70" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Ala110Thr)" "" "0000989478" "00009214" "70" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Arg359Cys)" "" "0000989479" "00009214" "70" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Asp93Asn)" "" "0000989480" "00009214" "70" "797" "0" "797" "0" "c.797T>C" "r.(?)" "p.(Leu266Ser)" "" "0000989481" "00009214" "70" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Ser)" "" "0000989482" "00009214" "70" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Pro201Ser)" "" "0000989489" "00009214" "70" "" "0" "" "0" "c.-66_*612{0}" "r.0" "p.0" "_1_15_" "0000989490" "00009214" "70" "" "0" "" "0" "c.-66_*612{0}" "r.0" "p.0" "_1_15_" "0000989491" "00009214" "70" "" "0" "" "0" "c.-66_*612{0}" "r.0" "p.0" "_1_15_" "0000989492" "00009214" "70" "" "0" "" "0" "c.-66_*612{0}" "r.0" "p.0" "_1_15_" "0000989493" "00009214" "70" "" "0" "" "0" "c.-66_*612{0}" "r.0" "p.0" "_1_15_" "0000989494" "00009214" "70" "" "0" "" "0" "c.-66_*612{2}" "r.?" "p.?" "_1_15_" "0000989495" "00009214" "70" "" "0" "" "0" "c.-66_*612{2}" "r.?" "p.?" "_1_15_" "0000989496" "00009214" "70" "" "0" "" "0" "c.-66_*612{2}" "r.?" "p.?" "_1_15_" "0000989497" "00009214" "70" "" "0" "" "0" "c.-66_*612{2}" "r.?" "p.?" "_1_15_" "0000989498" "00009214" "70" "" "0" "" "0" "c.-66_*612{2}" "r.?" "p.?" "_1_15_" "0000989499" "00009214" "70" "" "0" "" "0" "c.-66_*612{2}" "r.?" "p.?" "_1_15_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000304197" "0000667610" "0000454602" "0000989477" "0000454603" "0000989478" "0000454604" "0000989479" "0000454605" "0000989480" "0000454606" "0000989481" "0000454607" "0000989482" "0000454610" "0000989489" "0000454611" "0000989490" "0000454612" "0000989491" "0000454613" "0000989492" "0000454614" "0000989493" "0000454615" "0000989494" "0000454616" "0000989495" "0000454617" "0000989496" "0000454618" "0000989497" "0000454619" "0000989498" "0000454620" "0000989499"