### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACSF3) # 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}}" "ACSF3" "acyl-CoA synthetase family member 3" "16" "q24.3" "unknown" "NG_031961.1" "UD_136019222298" "" "https://www.LOVD.nl/ACSF3" "" "1" "27288" "197322" "614245" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ACSF3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-24 15:49:01" "00000" "2026-01-20 18:57:21" ## 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}}" "00001998" "ACSF3" "transcript variant 1" "004" "NM_174917.3" "" "NP_777577.2" "" "" "" "-377" "3287" "1731" "89160217" "89222171" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "03590" "CMAMMA" "aciduria, combined malonic and methylmalonic (CMAMMA)" "" "614265" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "04063" "POF8" "ovarian failure, premature, type 8 (POF-8)" "AR" "615723" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACSF3" "00139" "ACSF3" "03590" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00029771" "" "" "" "2" "" "01224" "{PMID:Le Quesne Stabej 2016:26059840}, {DOI:Le Quesne Stabej 2016:10.1038/ejhg.2015.107}" "two affected sisters, unaffected parents" "F" "yes" "(Lebanon)" "" "0" "" "" "Lebanese" "26059840-FamPatII1/2" "00180973" "" "" "" "1" "" "02568" "" "unaffected heterozygous carrier parents" "?" "?" "" "00y11m" "0" "" "" "" "" "00291587" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291588" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00453710" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat137" "00468581" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00029771" "04063" "00180973" "03590" "00291587" "00198" "00291588" "00198" "00453710" "02554" "00468581" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02554, 03590, 04063 ## Count = 4 "{{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}}" "0000025736" "04063" "00029771" "01224" "Familial, autosomal recessive" "" "see paper; ...; primary ovarian insufficiency with complete lack of any pubertal development and streak gonads" "" "" "" "" "" "" "" "" "" "" "" "0000143240" "03590" "00180973" "02568" "Familial, autosomal recessive" "" "(HP:0002912) Methylmalonic acidemia" "" "" "" "" "" "" "" "" "" "" "" "0000342367" "02554" "00453710" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "CMAMMA" "inborn error of metabolism" "" "0000353734" "00198" "00468581" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" ## 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}}" "0000029814" "00029771" "1" "01224" "01224" "2015-02-08 00:02:12" "01224" "2015-02-16 10:35:39" "SEQ;SEQ-NG" "DNA" "" "" "0000181921" "00180973" "1" "02568" "02568" "2018-09-19 12:29:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000181922" "00180973" "1" "02568" "02568" "2018-09-19 13:01:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000292755" "00291587" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292756" "00291588" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000455322" "00453710" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000470249" "00468581" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000029814" "STAG3" "0000181921" "ACSF3" "0000181922" "ACSF3" ## 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 = 69 "{{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}}" "0000222313" "3" "50" "16" "89220527" "89220527" "subst" "0.000242782" "00006" "ACSF3_000001" "g.89220527C>T" "" "{PMID:Le Quesne Stabej 2016:26059840}, {DOI:Le Quesne Stabej 2016:10.1038/ejhg.2015.107}" "" "rs139520739" "" "Germline" "" "rs139520739" "0" "" "" "g.89154119C>T" "" "VUS" "" "0000258904" "0" "10" "16" "89180883" "89180883" "subst" "0.717058" "02325" "ACSF3_000019" "g.89180883G>A" "" "" "" "ACSF3(NM_001243279.3):c.1114G>A (p.V372M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89114475G>A" "" "benign" "" "0000258905" "0" "10" "16" "89199651" "89199651" "subst" "0.260448" "02325" "ACSF3_000021" "g.89199651G>A" "" "" "" "ACSF3(NM_001243279.3):c.1347G>A (p.L449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89133243G>A" "" "benign" "" "0000258906" "0" "10" "16" "89167395" "89167395" "subst" "0.719398" "02325" "ACSF3_000007" "g.89167395C>T" "" "" "" "ACSF3(NM_001243279.3):c.306C>T (p.C102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89100987C>T" "" "benign" "" "0000258907" "0" "10" "16" "89167404" "89167404" "subst" "0.720264" "02325" "ACSF3_000008" "g.89167404T>C" "" "" "" "ACSF3(NM_001243279.3):c.315T>C (p.D105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89100996T>C" "" "benign" "" "0000258908" "0" "10" "16" "89167431" "89167431" "subst" "0.721709" "02325" "ACSF3_000011" "g.89167431G>C" "" "" "" "ACSF3(NM_001243279.3):c.342G>C (p.A114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89101023G>C" "" "benign" "" "0000258909" "0" "10" "16" "89167443" "89167443" "subst" "0.721737" "02325" "ACSF3_000012" "g.89167443T>C" "" "" "" "ACSF3(NM_001243279.3):c.354T>C (p.S118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89101035T>C" "" "benign" "" "0000258910" "0" "10" "16" "89167458" "89167458" "subst" "0.720507" "02325" "ACSF3_000013" "g.89167458C>A" "" "" "" "ACSF3(NM_001243279.3):c.369C>A (p.V123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89101050C>A" "" "benign" "" "0000258911" "0" "10" "16" "89167140" "89167140" "subst" "0.882977" "02325" "ACSF3_000005" "g.89167140G>C" "" "" "" "ACSF3(NM_001243279.3):c.51G>C (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89100732G>C" "" "benign" "" "0000258912" "0" "10" "16" "89167094" "89167094" "subst" "0.72002" "02325" "ACSF3_000004" "g.89167094T>C" "" "" "" "ACSF3(NM_001243279.3):c.5T>C (p.L2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89100686T>C" "" "benign" "" "0000260493" "0" "30" "16" "89167416" "89167416" "subst" "0.00013021" "02326" "ACSF3_000010" "g.89167416C>T" "" "" "" "ACSF3(NM_001243279.3):c.327C>T (p.V109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89101008C>T" "" "likely benign" "" "0000260494" "0" "10" "16" "89178531" "89178531" "subst" "0.0102799" "02326" "ACSF3_000015" "g.89178531C>T" "" "" "" "ACSF3(NM_001243279.3):c.854C>T (p.P285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89112123C>T" "" "benign" "" "0000325006" "0" "50" "16" "89167486" "89167486" "subst" "0" "01804" "ACSF3_000014" "g.89167486C>A" "" "" "" "ACSF3(NM_001127214.2):c.397C>A (p.(Gln133Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89101078C>A" "" "VUS" "" "0000325008" "0" "50" "16" "89180740" "89180740" "subst" "0.000508477" "01804" "ACSF3_000016" "g.89180740C>T" "" "" "" "ACSF3(NM_001127214.2):c.978-7C>T (p.(=)), ACSF3(NM_001243279.2):c.978-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89114332C>T" "" "VUS" "" "0000325013" "0" "50" "16" "89220552" "89220552" "subst" "0" "01804" "ACSF3_000023" "g.89220552C>G" "" "" "" "ACSF3(NM_001127214.2):c.1668C>G (p.(Ile556Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89154144C>G" "" "VUS" "" "0000405686" "11" "90" "16" "89167513" "89167513" "subst" "8.12618E-6" "02568" "ACSF3_000024" "g.89167513C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.89101105C>T" "" "pathogenic" "" "0000405687" "21" "90" "16" "89211754" "89211755" "del" "0" "02568" "ACSF3_000025" "g.89211754_89211755del" "" "" "" "1446_1447delCA" "" "Germline" "" "" "0" "" "" "g.89145346_89145347del" "" "pathogenic" "" "0000559771" "0" "10" "16" "89167076" "89167077" "ins" "0" "02325" "ACSF3_000026" "g.89167076_89167077insCCAGGAGGCTCCC" "" "" "" "ACSF3(NM_001243279.3):c.-14_-13insCCAGGAGGCTCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100668_89100669insCCAGGAGGCTCCC" "" "benign" "" "0000559772" "0" "10" "16" "89167077" "89167078" "ins" "0" "02325" "ACSF3_000027" "g.89167077_89167078insGGAGCG" "" "" "" "ACSF3(NM_001243279.3):c.-13_-12insGGAGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100669_89100670insGGAGCG" "" "benign" "" "0000559773" "0" "10" "16" "89167094" "89167094" "subst" "0.72002" "02327" "ACSF3_000004" "g.89167094T>C" "" "" "" "ACSF3(NM_001243279.3):c.5T>C (p.L2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100686T>C" "" "benign" "" "0000559775" "0" "10" "16" "89167140" "89167140" "subst" "0.882977" "02327" "ACSF3_000005" "g.89167140G>C" "" "" "" "ACSF3(NM_001243279.3):c.51G>C (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100732G>C" "" "benign" "" "0000559776" "0" "10" "16" "89167395" "89167395" "subst" "0.719398" "02327" "ACSF3_000007" "g.89167395C>T" "" "" "" "ACSF3(NM_001243279.3):c.306C>T (p.C102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100987C>T" "" "benign" "" "0000559777" "0" "10" "16" "89167404" "89167404" "subst" "0.720264" "02327" "ACSF3_000008" "g.89167404T>C" "" "" "" "ACSF3(NM_001243279.3):c.315T>C (p.D105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100996T>C" "" "benign" "" "0000559778" "0" "10" "16" "89167431" "89167431" "subst" "0.721709" "02327" "ACSF3_000011" "g.89167431G>C" "" "" "" "ACSF3(NM_001243279.3):c.342G>C (p.A114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89101023G>C" "" "benign" "" "0000559779" "0" "10" "16" "89167443" "89167443" "subst" "0.721737" "02327" "ACSF3_000012" "g.89167443T>C" "" "" "" "ACSF3(NM_001243279.3):c.354T>C (p.S118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89101035T>C" "" "benign" "" "0000559780" "0" "10" "16" "89167458" "89167458" "subst" "0.720507" "02327" "ACSF3_000013" "g.89167458C>A" "" "" "" "ACSF3(NM_001243279.3):c.369C>A (p.V123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89101050C>A" "" "benign" "" "0000559781" "0" "10" "16" "89180883" "89180883" "subst" "0.717058" "02327" "ACSF3_000019" "g.89180883G>A" "" "" "" "ACSF3(NM_001243279.3):c.1114G>A (p.V372M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89114475G>A" "" "benign" "" "0000559782" "0" "10" "16" "89199651" "89199651" "subst" "0.260448" "02327" "ACSF3_000021" "g.89199651G>A" "" "" "" "ACSF3(NM_001243279.3):c.1347G>A (p.L449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89133243G>A" "" "benign" "" "0000559783" "0" "50" "16" "89212360" "89212360" "subst" "8.12156E-6" "02327" "ACSF3_000029" "g.89212360G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89145952G>A" "" "VUS" "" "0000559784" "0" "30" "16" "89212465" "89212465" "subst" "0" "01804" "ACSF3_000030" "g.89212465T>G" "" "" "" "ACSF3(NM_001127214.2):c.1613+8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89146057T>G" "" "likely benign" "" "0000559785" "0" "30" "16" "89220494" "89220494" "subst" "0" "01804" "ACSF3_000031" "g.89220494G>A" "" "" "" "ACSF3(NM_001127214.2):c.1614-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154086G>A" "" "likely benign" "" "0000559787" "0" "90" "16" "89220556" "89220556" "subst" "0.00262637" "01804" "ACSF3_000033" "g.89220556C>T" "" "" "" "ACSF3(NM_001243279.2):c.1672C>T (p.R558W), ACSF3(NM_001243279.3):c.1672C>T (p.R558W), ACSF3(NM_174917.3):c.1672C>T (p.(Arg558Trp)), ACSF3(NM_17491...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154148C>T" "" "pathogenic" "" "0000559788" "0" "90" "16" "89220556" "89220556" "subst" "0.00262637" "02327" "ACSF3_000033" "g.89220556C>T" "" "" "" "ACSF3(NM_001243279.2):c.1672C>T (p.R558W), ACSF3(NM_001243279.3):c.1672C>T (p.R558W), ACSF3(NM_174917.3):c.1672C>T (p.(Arg558Trp)), ACSF3(NM_17491...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154148C>T" "" "pathogenic" "" "0000559789" "0" "70" "16" "89220556" "89220556" "subst" "0.00262637" "02325" "ACSF3_000033" "g.89220556C>T" "" "" "" "ACSF3(NM_001243279.2):c.1672C>T (p.R558W), ACSF3(NM_001243279.3):c.1672C>T (p.R558W), ACSF3(NM_174917.3):c.1672C>T (p.(Arg558Trp)), ACSF3(NM_17491...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154148C>T" "" "likely pathogenic" "" "0000559790" "0" "50" "16" "89220556" "89220556" "subst" "0.00262637" "02326" "ACSF3_000033" "g.89220556C>T" "" "" "" "ACSF3(NM_001243279.2):c.1672C>T (p.R558W), ACSF3(NM_001243279.3):c.1672C>T (p.R558W), ACSF3(NM_174917.3):c.1672C>T (p.(Arg558Trp)), ACSF3(NM_17491...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154148C>T" "" "VUS" "" "0000616249" "0" "30" "16" "89167219" "89167219" "subst" "3.2741E-5" "02327" "ACSF3_000034" "g.89167219G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100811G>A" "" "likely benign" "" "0000616250" "0" "30" "16" "89167350" "89167350" "subst" "2.0346E-5" "02327" "ACSF3_000035" "g.89167350G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89100942G>C" "" "likely benign" "" "0000616251" "0" "30" "16" "89167413" "89167413" "subst" "2.03465E-5" "02327" "ACSF3_000036" "g.89167413C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89101005C>T" "" "likely benign" "" "0000616252" "0" "30" "16" "89167634" "89167634" "subst" "0.000169621" "02327" "ACSF3_000037" "g.89167634C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89101226C>T" "" "likely benign" "" "0000616253" "0" "30" "16" "89169066" "89169066" "subst" "0" "02327" "ACSF3_000038" "g.89169066G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89102658G>C" "" "likely benign" "" "0000616254" "0" "70" "16" "89180844" "89180844" "subst" "0.000679929" "02326" "ACSF3_000018" "g.89180844G>A" "" "" "" "ACSF3(NM_001243279.2):c.1075G>A (p.E359K), ACSF3(NM_001243279.3):c.1075G>A (p.E359K), ACSF3(NM_174917.5):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89114436G>A" "" "likely pathogenic" "" "0000616255" "0" "50" "16" "89211764" "89211764" "subst" "0.000471414" "02327" "ACSF3_000040" "g.89211764G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89145356G>A" "" "VUS" "" "0000616256" "0" "30" "16" "89220486" "89220486" "subst" "0.000774058" "02327" "ACSF3_000041" "g.89220486T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154078T>C" "" "likely benign" "" "0000616257" "0" "50" "16" "89220527" "89220527" "subst" "0.000242782" "02327" "ACSF3_000001" "g.89220527C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89154119C>T" "" "VUS" "" "0000623571" "0" "30" "16" "89178528" "89178528" "subst" "1.77013E-5" "01943" "ACSF3_000039" "g.89178528C>A" "" "" "" "ACSF3(NM_001243279.2):c.851C>A (p.T284K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89112120C>A" "" "likely benign" "" "0000623572" "0" "30" "16" "89178531" "89178531" "subst" "0.0102799" "02325" "ACSF3_000015" "g.89178531C>T" "" "" "" "ACSF3(NM_001243279.3):c.854C>T (p.P285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89112123C>T" "" "likely benign" "" "0000649444" "1" "90" "16" "89167678" "89167678" "subst" "0" "03575" "ACSF3_000042" "g.89167678G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs761573352}" "Germline" "" "rs761573352" "0" "" "" "g.89101270G>A" "" "pathogenic" "" "0000649445" "1" "50" "16" "89180844" "89180844" "subst" "0.000679929" "03575" "ACSF3_000018" "g.89180844G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs150487794}" "Germline" "" "rs150487794" "0" "" "" "g.89114436G>A" "" "VUS" "" "0000680729" "0" "70" "16" "89178505" "89178505" "subst" "4.95197E-5" "02325" "ACSF3_000043" "g.89178505G>T" "" "" "" "ACSF3(NM_001243279.2):c.828G>T (p.W276C), ACSF3(NM_001243279.3):c.828G>T (p.W276C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680730" "0" "30" "16" "89180740" "89180740" "subst" "0.000508477" "01943" "ACSF3_000016" "g.89180740C>T" "" "" "" "ACSF3(NM_001127214.2):c.978-7C>T (p.(=)), ACSF3(NM_001243279.2):c.978-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692204" "0" "50" "16" "89180844" "89180844" "subst" "0.000679929" "01943" "ACSF3_000018" "g.89180844G>A" "" "" "" "ACSF3(NM_001243279.2):c.1075G>A (p.E359K), ACSF3(NM_001243279.3):c.1075G>A (p.E359K), ACSF3(NM_174917.5):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726053" "0" "30" "16" "89167117" "89167117" "subst" "0.000216709" "01943" "ACSF3_000044" "g.89167117C>T" "" "" "" "ACSF3(NM_001243279.2):c.28C>T (p.R10W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726054" "0" "50" "16" "89187227" "89187227" "subst" "4.06058E-6" "01943" "ACSF3_000045" "g.89187227T>C" "" "" "" "ACSF3(NM_001243279.2):c.1145T>C (p.L382P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807705" "0" "50" "16" "89167507" "89167507" "subst" "0" "02325" "ACSF3_000046" "g.89167507G>C" "" "" "" "ACSF3(NM_174917.5):c.418G>C (p.D140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807706" "0" "90" "16" "89167513" "89167513" "subst" "8.12618E-6" "01943" "ACSF3_000024" "g.89167513C>T" "" "" "" "ACSF3(NM_001243279.2):c.424C>T (p.Q142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807707" "0" "50" "16" "89212460" "89212460" "subst" "0.000141004" "01943" "ACSF3_000047" "g.89212460A>C" "" "" "" "ACSF3(NM_001243279.2):c.1613+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865004" "0" "50" "16" "89178505" "89178505" "subst" "4.95197E-5" "01943" "ACSF3_000043" "g.89178505G>T" "" "" "" "ACSF3(NM_001243279.2):c.828G>T (p.W276C), ACSF3(NM_001243279.3):c.828G>T (p.W276C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865005" "0" "50" "16" "89220556" "89220556" "subst" "0.00262637" "01943" "ACSF3_000033" "g.89220556C>T" "" "" "" "ACSF3(NM_001243279.2):c.1672C>T (p.R558W), ACSF3(NM_001243279.3):c.1672C>T (p.R558W), ACSF3(NM_174917.3):c.1672C>T (p.(Arg558Trp)), ACSF3(NM_17491...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950767" "0" "50" "16" "89167234" "89167234" "subst" "7.74991E-5" "02325" "ACSF3_000048" "g.89167234C>T" "" "" "" "ACSF3(NM_174917.5):c.145C>T (p.R49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950768" "0" "70" "16" "89180844" "89180844" "subst" "0.000679929" "02325" "ACSF3_000018" "g.89180844G>A" "" "" "" "ACSF3(NM_001243279.2):c.1075G>A (p.E359K), ACSF3(NM_001243279.3):c.1075G>A (p.E359K), ACSF3(NM_174917.5):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002735" "0" "70" "16" "89169088" "89169088" "subst" "2.03224E-5" "02327" "ACSF3_000049" "g.89169088A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002736" "0" "90" "16" "89178504" "89178504" "subst" "1.33786E-5" "02327" "ACSF3_000050" "g.89178504G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002737" "0" "50" "16" "89211778" "89211778" "subst" "0.000227611" "02327" "ACSF3_000051" "g.89211778G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007355" "1" "90" "16" "89167513" "89167513" "subst" "8.12618E-6" "00006" "ACSF3_000024" "g.89167513C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.89101105C>T" "" "pathogenic" "" "0001007424" "2" "90" "16" "89211754" "89211755" "del" "0" "00006" "ACSF3_000025" "g.89211754_89211755del" "" "{PMID:Navarrete 2019:30626930}" "" "1446_1447delCA" "" "Germline" "" "" "0" "" "" "g.89145346_89145347del" "" "pathogenic" "" "0001046586" "0" "70" "16" "89211763" "89211763" "subst" "1.2192E-5" "02327" "ACSF3_000052" "g.89211763C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055720" "0" "50" "16" "89211652" "89211704" "dup" "0" "01804" "ACSF3_000053" "g.89211652_89211704dup" "" "" "" "ACSF3(NM_001243279.3):c.1367-23_1396dup (p.(Tyr466Leufs*57))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058371" "0" "90" "16" "89220556" "89220556" "subst" "0.00262637" "00006" "ACSF3_000033" "g.89220556C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.89154148C>T" "" "pathogenic" "" "0001066565" "0" "30" "16" "89167161" "89167161" "subst" "7.97723E-5" "02325" "ACSF3_000054" "g.89167161G>A" "" "" "" "" "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 ACSF3 ## Count = 69 "{{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}}" "0000222313" "00001998" "50" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Ser548Leu)" "11" "0000258904" "00001998" "10" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "" "0000258905" "00001998" "10" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Leu449=)" "" "0000258906" "00001998" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Cys102=)" "" "0000258907" "00001998" "10" "315" "0" "315" "0" "c.315T>C" "r.(?)" "p.(Asp105=)" "" "0000258908" "00001998" "10" "342" "0" "342" "0" "c.342G>C" "r.(?)" "p.(Ala114=)" "" "0000258909" "00001998" "10" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Ser118=)" "" "0000258910" "00001998" "10" "369" "0" "369" "0" "c.369C>A" "r.(?)" "p.(Val123=)" "" "0000258911" "00001998" "10" "51" "0" "51" "0" "c.51G>C" "r.(?)" "p.(Ala17=)" "" "0000258912" "00001998" "10" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Leu2Pro)" "" "0000260493" "00001998" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Val109=)" "" "0000260494" "00001998" "10" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Pro285Leu)" "" "0000325006" "00001998" "50" "397" "0" "397" "0" "c.397C>A" "r.(?)" "p.(Gln133Lys)" "" "0000325008" "00001998" "50" "978" "-7" "978" "-7" "c.978-7C>T" "r.(=)" "p.(=)" "" "0000325013" "00001998" "50" "1668" "0" "1668" "0" "c.1668C>G" "r.(?)" "p.(Ile556Met)" "" "0000405686" "00001998" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Gln142*)" "" "0000405687" "00001998" "90" "1446" "0" "1447" "0" "c.1446_1447del" "r.(?)" "p.(Tyr482*)" "" "0000559771" "00001998" "10" "-14" "0" "-13" "0" "c.-14_-13insCCAGGAGGCTCCC" "r.(?)" "p.(=)" "" "0000559772" "00001998" "10" "-13" "0" "-12" "0" "c.-13_-12insGGAGCG" "r.(?)" "p.(=)" "" "0000559773" "00001998" "10" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Leu2Pro)" "" "0000559775" "00001998" "10" "51" "0" "51" "0" "c.51G>C" "r.(?)" "p.(Ala17=)" "" "0000559776" "00001998" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Cys102=)" "" "0000559777" "00001998" "10" "315" "0" "315" "0" "c.315T>C" "r.(?)" "p.(Asp105=)" "" "0000559778" "00001998" "10" "342" "0" "342" "0" "c.342G>C" "r.(?)" "p.(Ala114=)" "" "0000559779" "00001998" "10" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Ser118=)" "" "0000559780" "00001998" "10" "369" "0" "369" "0" "c.369C>A" "r.(?)" "p.(Val123=)" "" "0000559781" "00001998" "10" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "" "0000559782" "00001998" "10" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Leu449=)" "" "0000559783" "00001998" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Gly506Arg)" "" "0000559784" "00001998" "30" "1613" "8" "1613" "8" "c.1613+8T>G" "r.(=)" "p.(=)" "" "0000559785" "00001998" "30" "1614" "-4" "1614" "-4" "c.1614-4G>A" "r.spl?" "p.?" "" "0000559787" "00001998" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000559788" "00001998" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000559789" "00001998" "70" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000559790" "00001998" "50" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000616249" "00001998" "30" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Ala44Thr)" "" "0000616250" "00001998" "30" "261" "0" "261" "0" "c.261G>C" "r.(?)" "p.(Gly87=)" "" "0000616251" "00001998" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Tyr108=)" "" "0000616252" "00001998" "30" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000616253" "00001998" "30" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Val241Leu)" "" "0000616254" "00001998" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Glu359Lys)" "" "0000616255" "00001998" "50" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Ala486Thr)" "" "0000616256" "00001998" "30" "1614" "-12" "1614" "-12" "c.1614-12T>C" "r.(=)" "p.(=)" "" "0000616257" "00001998" "50" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Ser548Leu)" "" "0000623571" "00001998" "30" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Thr284Lys)" "" "0000623572" "00001998" "30" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Pro285Leu)" "" "0000649444" "00001998" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Ala197Thr)" "" "0000649445" "00001998" "50" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Glu359Lys)" "" "0000680729" "00001998" "70" "828" "0" "828" "0" "c.828G>T" "r.(?)" "p.(Trp276Cys)" "" "0000680730" "00001998" "30" "978" "-7" "978" "-7" "c.978-7C>T" "r.(=)" "p.(=)" "" "0000692204" "00001998" "50" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Glu359Lys)" "" "0000726053" "00001998" "30" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Arg10Trp)" "" "0000726054" "00001998" "50" "1145" "0" "1145" "0" "c.1145T>C" "r.(?)" "p.(Leu382Pro)" "" "0000807705" "00001998" "50" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Asp140His)" "" "0000807706" "00001998" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Gln142*)" "" "0000807707" "00001998" "50" "1613" "3" "1613" "3" "c.1613+3A>C" "r.spl?" "p.?" "" "0000865004" "00001998" "50" "828" "0" "828" "0" "c.828G>T" "r.(?)" "p.(Trp276Cys)" "" "0000865005" "00001998" "50" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000950767" "00001998" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "" "0000950768" "00001998" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Glu359Lys)" "" "0001002735" "00001998" "70" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(His248Arg)" "" "0001002736" "00001998" "90" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Trp276*)" "" "0001002737" "00001998" "50" "1470" "0" "1470" "0" "c.1470G>C" "r.(?)" "p.(Glu490Asp)" "" "0001007355" "00001998" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Gln142Ter)" "3" "0001007424" "00001998" "90" "1446" "0" "1447" "0" "c.1446_1447del" "r.(?)" "p.(Tyr482Ter)" "9" "0001046586" "00001998" "70" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(=)" "" "0001055720" "00001998" "50" "1367" "-23" "1396" "0" "c.1367-23_1396dup" "r.spl?" "p.?" "" "0001058371" "00001998" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0001066565" "00001998" "30" "72" "0" "72" "0" "c.72G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000029814" "0000222313" "0000181921" "0000405686" "0000181922" "0000405687" "0000292755" "0000649444" "0000292756" "0000649445" "0000455322" "0001007355" "0000455322" "0001007424" "0000470249" "0001058371"