### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACSL4) # 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}}" "ACSL4" "acyl-CoA synthetase long-chain family member 4" "X" "q22.3-q23" "unknown" "NG_008053.1" "UD_132085306979" "" "https://www.LOVD.nl/ACSL4" "" "1" "3571" "2182" "300157" "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/ACSL4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2016-12-29 12:13:02" "00006" "2026-09-24 13:28:19" ## 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}}" "00026113" "ACSL4" "transcript variant 4 (removed from reference sequence)" "000" "NM_001318510.2" "" "NP_001305439.1" "" "" "MANE select" "-184" "4707" "2013" "1" "1" "00006" "2026-09-24 12:56:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "01125" "XLID63" "ntellectual developmental disorder, X-linked, type 63" "XLD" "300387" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-03-16 12:11:28" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05132" "ATS" "Alport syndrome" "" "" "" "" "" "00006" "2016-02-19 02:06:46" "00006" "2024-02-15 12:57:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACSL4" "00139" "ACSL4" "01125" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00093461" "" "" "" "1" "" "00687" "{PMID:Rodriguez 2010:20186809}, {PMID:Meloni 2002:12011158}, {PMID:Piccini 1998:9480748}" "" "M" "" "" "" "0" "" "" "European" "" "00170830" "" "" "" "1" "" "00006" "{PMID:Ito 2018:29961568}, {DOI:Ito 2018:10.1016/j.ajhg.2018.06.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "29961568-FamPat3" "00172899" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183091" "" "" "" "7" "" "00006" "{PMID:Hu 2016:25644381}" "family, 7 affected, 10 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU33" "00183092" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX68/D109" "00225482" "" "" "" "1" "" "00006" "{PMID:Morimoto 2018:30401460}, {DOI:Morimoto 2018:10.1016/j.ajhg.2018.09.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "30401460-Fam2" "00307711" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411400" "00374642" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2740" "00392045" "" "" "" "2" "" "02494" "family, 2 affected" "" "M" "no" "Spain" "" "0" "" "" "" "242P1" "00392046" "" "" "00392045" "1" "" "02494" "" "" "M" "no" "Spain" "" "0" "" "" "" "242P2" "00474357" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41828661}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Taiwan" "" "0" "" "" "" "Pat9" "00485119" "" "" "" "1" "" "04653" "" "" "F" "" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00093461" "05132" "00170830" "00198" "00172899" "00187" "00183091" "00187" "00183092" "00187" "00225482" "00198" "00307711" "00139" "00374642" "00198" "00392045" "01125" "00392046" "01125" "00474357" "05121" "00485119" "00212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00212, 01125, 01157, 05121, 05132 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "0000071852" "05132" "00093461" "00687" "Unknown" "" "hearing loss; intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000135690" "00198" "00170830" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability, seizures" "" "0000137763" "00187" "00172899" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143845" "00187" "00183091" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143846" "00187" "00183092" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000170597" "00198" "00225482" "00006" "Familial, autosomal recessive" "" "delivery c-section; born at term; no polyhydramnios; decreased fetal movements; bradycardia; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; almond-shaped palpebral fissure; no epicanthal folds; ptosis; long eyelashes; no synophrys; ectropion; unusual nose; downturned mouth; macrostomia; macroglossia; full or thick lips; no dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; no dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; genital anomaly; hypotonia; bilateral hip dislocation; hip dysplasia; no bilateral coxa valga; abnormal bone density; narrow chest; fibular bowing; no genu valgum; bilateral clubfoot; small feet; no pectus excavatum; scoliosis; recurrent infections; immunodeficiency; rickets; obstructive sleep apnea; ventricular septal defect; patent ductus arteriosus; no hepatosplenomegaly; steatorrhea; chronic diarrhea; no gallstones; no gastrostomy tube; renal abnormalities; severe global developmental delay; no hyperreflexia; reduced tendon reflexes; absent achilles reflex; no behavioral issues; abnormal ventricle morphology; no abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "multisystem disorder" "" "0000269852" "00198" "00374642" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability" "" "0000359155" "05121" "00474357" "00006" "Familial, X-linked recessive" "7.4y" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000367841" "00212" "00485119" "04653" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000093629" "00093461" "1" "00687" "00687" "2013-03-22 07:23:07" "00006" "2016-12-30 14:05:30" "PCR;SEQ;Southern" "DNA" "" "" "0000171711" "00170830" "1" "00006" "00006" "2018-07-23 23:35:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000173782" "00172899" "1" "00124" "00006" "2009-04-08 13:55:22" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000184049" "00183091" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184050" "00183092" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000226561" "00225482" "1" "00006" "00006" "2019-02-17 11:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308851" "00307711" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000375836" "00374642" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393287" "00392045" "1" "02494" "02494" "2021-11-19 18:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000393288" "00392046" "1" "02494" "02494" "2021-11-19 18:10:54" "" "" "SEQ-NG" "DNA" "" "WES" "0000476039" "00474357" "1" "00006" "00006" "2026-03-16 13:55:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486776" "00485119" "1" "04653" "04653" "2026-09-23 17:29:02" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000093629" "ACSL4" "0000093629" "COL4A5" "0000171711" "WASF1" "0000173782" "TRMT2B" "0000184049" "ACSL4" "0000184050" "ACSL4" "0000226561" "CCDC47" "0000308851" "ACSL4" "0000375836" "ACSL4" ## 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 = 56 "{{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}}" "0000007437" "20" "50" "X" "108904729" "108904729" "subst" "0.989691" "00037" "ACSL4_000003" "g.108904729C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109661500C>T" "" "VUS" "" "0000007438" "20" "50" "X" "108917757" "108917757" "subst" "0" "00037" "ACSL4_000002" "g.108917757T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109674528T>C" "" "VUS" "" "0000007439" "20" "50" "X" "108917773" "108917773" "subst" "0" "00037" "ACSL4_000004" "g.108917773A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109674544A>G" "" "VUS" "" "0000009563" "20" "50" "X" "108904729" "108904729" "subst" "0.989691" "00037" "ACSL4_000003" "g.108904729C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109661500C>T" "" "VUS" "" "0000009564" "20" "50" "X" "108917757" "108917757" "subst" "0" "00037" "ACSL4_000002" "g.108917757T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109674528T>C" "" "VUS" "" "0000009565" "20" "50" "X" "108917773" "108917773" "subst" "0" "00037" "ACSL4_000004" "g.108917773A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109674544A>G" "" "VUS" "" "0000015414" "20" "50" "X" "108921986" "108921986" "subst" "0" "00037" "ACSL4_000005" "g.108921986C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109678757C>A" "" "VUS" "" "0000152691" "0" "90" "X" "107759521" "108908918" "del" "0" "00006" "COL4A5_000981" "g.107759521_108908918del" "" "{PMID:Rodriguez 2010:20186809}, {PMID:Meloni 2002:12011158}, {PMID:Piccini 1998:9480748}" "" "COL4A5 IVS2_ACSL4 IVS12 del" "fusion transcript COL4A5_ACSL4" "Germline" "" "" "0" "" "" "g.108516292_109665689del" "" "pathogenic" "" "0000249750" "0" "50" "X" "108924331" "108924331" "subst" "0" "02325" "ACSL4_000017" "g.108924331A>T" "" "" "" "ACSL4(NM_022977.3):c.674T>A (p.I225N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109681102A>T" "" "VUS" "" "0000255338" "0" "30" "X" "108887424" "108887424" "subst" "0.00025305" "01943" "ACSL4_000007" "g.108887424A>G" "" "" "" "ACSL4(NM_022977.2):c.1979-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109644195A>G" "" "likely benign" "" "0000255339" "0" "30" "X" "108924487" "108924487" "subst" "0.000100854" "01943" "ACSL4_000018" "g.108924487A>C" "" "" "" "ACSL4(NM_022977.2):c.639+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109681258A>C" "" "likely benign" "" "0000261797" "0" "50" "X" "108912314" "108912314" "subst" "0" "01943" "ACSL4_000015" "g.108912314T>A" "" "" "" "ACSL4(NM_022977.2):c.1214A>T (p.D405V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109669085T>A" "" "VUS" "" "0000261798" "0" "50" "X" "108906563" "108906563" "subst" "0" "01943" "ACSL4_000011" "g.108906563T>C" "" "" "" "ACSL4(NM_022977.2):c.1582A>G (p.M528V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109663334T>C" "" "VUS" "" "0000261799" "0" "30" "X" "108904849" "108904849" "subst" "1.12327E-5" "01943" "ACSL4_000010" "g.108904849T>C" "" "" "" "ACSL4(NM_022977.2):c.1731A>G (p.L577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109661620T>C" "" "likely benign" "" "0000261800" "0" "30" "X" "108904831" "108904831" "subst" "2.24464E-5" "01943" "ACSL4_000009" "g.108904831T>C" "" "" "" "ACSL4(NM_022977.2):c.1749A>G (p.V583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109661602T>C" "" "likely benign" "" "0000261801" "0" "10" "X" "108924553" "108924553" "subst" "5.03925E-5" "01943" "ACSL4_000019" "g.108924553T>C" "" "" "" "ACSL4(NM_022977.2):c.581A>G (p.N194S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109681324T>C" "" "benign" "" "0000335164" "0" "50" "X" "108906638" "108906638" "subst" "0.000866012" "01804" "ACSL4_000012" "g.108906638A>G" "" "" "" "ACSL4(NM_004458.2):c.1391-7T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109663409A>G" "" "VUS" "" "0000335165" "0" "30" "X" "108908714" "108908714" "subst" "0.000447923" "01804" "ACSL4_000013" "g.108908714T>C" "" "" "" "ACSL4(NM_001318510.2):c.1325A>G (p.(Tyr442Cys)), ACSL4(NM_022977.2):c.1448A>G (p.Y483C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109665485T>C" "" "likely benign" "" "0000335166" "0" "10" "X" "108911384" "108911384" "subst" "2.24106E-5" "01804" "ACSL4_000014" "g.108911384T>C" "" "" "" "ACSL4(NM_004458.2):c.1261A>G (p.(Ile421Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109668155T>C" "" "benign" "" "0000335167" "0" "30" "X" "108921491" "108921491" "subst" "0.000733113" "01804" "ACSL4_000016" "g.108921491T>C" "" "" "" "ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G, ACSL4(NM_022977.3):c.929+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109678262T>C" "" "likely benign" "" "0000345167" "0" "90" "X" "108925993" "108925993" "subst" "0" "02327" "ACSL4_000021" "g.108925993C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109682764C>A" "" "pathogenic" "" "0000346509" "0" "50" "X" "108926526" "108926526" "subst" "0" "02327" "ACSL4_000022" "g.108926526G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109683297G>A" "" "VUS" "" "0000350723" "0" "90" "X" "108906439" "108906439" "subst" "0" "02327" "ACSL4_000020" "g.108906439C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109663210C>T" "" "pathogenic" "" "0000392013" "21" "50" "X" "108912393" "108912393" "subst" "1.71532E-5" "00006" "ACSL4_000023" "g.108912393C>T" "" "{PMID:Ito 2018:29961568}, {DOI:Ito 2018:10.1016/j.ajhg.2018.06.001}" "" "" "variant not linked to phenotype" "Germline" "" "" "0" "" "" "g.109669164C>T" "" "VUS" "" "0000394021" "1" "50" "X" "108911386" "108911386" "subst" "0" "00124" "ACSL4_000024" "g.108911386G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.109668157G>A" "" "VUS" "" "0000408018" "21" "90" "X" "108902601" "108902601" "subst" "0" "00006" "ACSL4_000025" "g.108902601G>A" "" "{PMID:Hu 2016:25644381}" "" "ACSL4 R654*" "" "Germline" "yes" "" "0" "" "" "g.109659372G>A" "" "pathogenic" "" "0000408019" "21" "90" "X" "108917632" "108917632" "subst" "0" "00006" "ACSL4_000026" "g.108917632G>A" "" "{PMID:Hu 2016:25644381}" "" "ACSL4 P375L" "" "Germline" "yes" "" "0" "" "" "g.109674403G>A" "" "pathogenic" "" "0000458891" "21" "50" "X" "108912383" "108912383" "subst" "0" "00006" "ACSL4_000027" "g.108912383T>C" "" "{PMID:Morimoto 2018:30401460}, {DOI:Morimoto 2018:10.1016/j.ajhg.2018.09.014}" "" "" "" "Germline" "" "" "0" "" "" "g.109669154T>C" "" "VUS" "" "0000572974" "0" "30" "X" "108902667" "108902667" "subst" "1.12109E-5" "01943" "ACSL4_000028" "g.108902667C>T" "" "" "" "ACSL4(NM_022977.2):c.1894G>A (p.V632I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109659438C>T" "" "likely benign" "" "0000572975" "0" "10" "X" "108908714" "108908714" "subst" "0.000447923" "01943" "ACSL4_000013" "g.108908714T>C" "" "" "" "ACSL4(NM_001318510.2):c.1325A>G (p.(Tyr442Cys)), ACSL4(NM_022977.2):c.1448A>G (p.Y483C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109665485T>C" "" "benign" "" "0000572976" "0" "30" "X" "108912383" "108912383" "subst" "0" "01943" "ACSL4_000027" "g.108912383T>C" "" "" "" "ACSL4(NM_022977.2):c.1145A>G (p.Y382C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109669154T>C" "" "likely benign" "" "0000572977" "0" "50" "X" "108921331" "108921331" "subst" "0" "02327" "ACSL4_000029" "g.108921331G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109678102G>C" "" "VUS" "" "0000572978" "0" "30" "X" "108921338" "108921338" "subst" "5.59563E-5" "01943" "ACSL4_000030" "g.108921338G>A" "" "" "" "ACSL4(NM_022977.2):c.932C>T (p.P311L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109678109G>A" "" "likely benign" "" "0000572979" "0" "10" "X" "108921491" "108921491" "subst" "0.000733113" "01943" "ACSL4_000016" "g.108921491T>C" "" "" "" "ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G, ACSL4(NM_022977.3):c.929+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109678262T>C" "" "benign" "" "0000572980" "0" "30" "X" "108921491" "108921491" "subst" "0.000733113" "02325" "ACSL4_000016" "g.108921491T>C" "" "" "" "ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G, ACSL4(NM_022977.3):c.929+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109678262T>C" "" "likely benign" "" "0000572981" "0" "50" "X" "108925951" "108925951" "subst" "0" "01943" "ACSL4_000031" "g.108925951G>C" "" "" "" "ACSL4(NM_022977.2):c.526C>G (p.P176A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109682722G>C" "" "VUS" "" "0000572982" "0" "30" "X" "108926503" "108926503" "subst" "5.59807E-5" "01804" "ACSL4_000032" "g.108926503T>C" "" "" "" "ACSL4(NM_004458.2):c.90A>G (p.(Ile30Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109683274T>C" "" "likely benign" "" "0000624374" "0" "30" "X" "108906546" "108906546" "subst" "7.29734E-5" "01943" "ACSL4_000033" "g.108906546A>G" "" "" "" "ACSL4(NM_022977.2):c.1599T>C (p.N533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109663317A>G" "" "likely benign" "" "0000624375" "0" "30" "X" "108911465" "108911465" "subst" "0.000108401" "01943" "ACSL4_000034" "g.108911465T>C" "" "" "" "ACSL4(NM_022977.2):c.1303A>G (p.N435D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109668236T>C" "" "likely benign" "" "0000682020" "0" "30" "X" "108921604" "108921604" "subst" "0.000386068" "01943" "ACSL4_000035" "g.108921604G>A" "" "" "" "ACSL4(NM_022977.2):c.819C>T (p.A273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109678375G>A" "" "likely benign" "" "0000683285" "0" "70" "X" "108902601" "108902601" "subst" "0" "00006" "ACSL4_000025" "g.108902601G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.109659372G>A" "" "likely pathogenic" "" "0000728322" "0" "30" "X" "108924521" "108924521" "subst" "5.59867E-6" "01943" "ACSL4_000036" "g.108924521C>T" "" "" "" "ACSL4(NM_022977.2):c.613G>A (p.V205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109681292C>T" "" "likely benign" "" "0000787187" "0" "50" "X" "0" "0" "" "0" "00006" "USP9X_000005" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1181A>G (Asn394Ser)" "" "Germline" "" "" "0" "" "" "g.?" "" "VUS" "" "0000824019" "21" "50" "X" "108906532" "108906532" "subst" "1.68518E-5" "02494" "ACSL4_000037" "g.108906532G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109663303G>A" "" "VUS" "" "0000824020" "21" "50" "X" "108906532" "108906532" "subst" "1.68518E-5" "02494" "ACSL4_000037" "g.108906532G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109663303G>A" "" "VUS" "" "0000866977" "0" "50" "X" "108887404" "108887404" "subst" "0" "02325" "ACSL4_000038" "g.108887404G>A" "" "" "" "ACSL4(NM_004458.3):c.1867C>T (p.R623*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109644175G>A" "" "VUS" "" "0000866978" "0" "30" "X" "108917621" "108917621" "subst" "5.60237E-6" "01943" "ACSL4_000039" "g.108917621C>A" "" "" "" "ACSL4(NM_022977.2):c.1125+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109674392C>A" "" "likely benign" "" "0000895874" "0" "70" "X" "108904871" "108904871" "subst" "0" "02327" "ACSL4_000040" "g.108904871C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109661642C>T" "" "likely pathogenic" "" "0000895875" "0" "70" "X" "108904872" "108904872" "subst" "0" "02327" "ACSL4_000041" "g.108904872G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109661643G>A" "" "likely pathogenic" "" "0000970609" "0" "70" "X" "108906494" "108906494" "del" "0" "02325" "ACSL4_000042" "g.108906494del" "" "" "" "ACSL4(NM_004458.3):c.1531delT (p.C511Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109663265del" "" "likely pathogenic" "" "0000984385" "0" "70" "X" "108911414" "108911414" "subst" "0" "02327" "ACSL4_000044" "g.108911414G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109668185G>A" "" "likely pathogenic" "" "0001044038" "0" "30" "X" "108906629" "108906629" "subst" "5.63898E-6" "01804" "ACSL4_000045" "g.108906629C>T" "" "" "" "ACSL4(NM_001318510.2):c.1393G>A (p.(Gly465Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109663400C>T" "" "likely benign" "" "0001044039" "0" "30" "X" "108918119" "108918119" "subst" "0" "01804" "ACSL4_000046" "g.108918119C>A" "" "" "" "ACSL4(NM_001318510.2):c.931-417G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109674890C>A" "" "likely benign" "" "0001044040" "0" "30" "X" "108938535" "108938535" "subst" "0" "01804" "ACSL4_000047" "g.108938535C>T" "" "" "" "ACSL4(NM_001318510.2):c.-13+838G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109695306C>T" "" "likely benign" "" "0001070775" "21" "50" "X" "108912406" "108912406" "subst" "1.72529E-5" "00006" "ACSL4_000048" "g.108912406A>G" "" "{PMID:Lee 2026:41828661}" "" "" "" "Germline" "" "" "0" "" "" "g.109669177A>G" "" "VUS" "" "0001089888" "0" "50" "X" "108911434" "108911434" "subst" "0" "04653" "ACSL4_000049" "g.108911434G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.109668205G>A" "" "VUS" "ACMG" ## 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 ACSL4 ## Count = 56 "{{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}}" "0000007437" "00026113" "50" "1697" "31" "1697" "31" "c.1697+31G>A" "r.(?)" "p.?" "" "0000007438" "00026113" "50" "931" "-55" "931" "-55" "c.931-55A>G" "r.(?)" "p.?" "" "0000007439" "00026113" "50" "931" "-71" "931" "-71" "c.931-71T>C" "r.(?)" "p.?" "" "0000009563" "00026113" "50" "1697" "31" "1697" "31" "c.1697+31G>A" "r.(?)" "p.?" "" "0000009564" "00026113" "50" "931" "-55" "931" "-55" "c.931-55A>G" "r.(?)" "p.?" "" "0000009565" "00026113" "50" "931" "-71" "931" "-71" "c.931-71T>C" "r.(?)" "p.?" "" "0000015414" "00026113" "50" "656" "-342" "656" "-342" "c.656-342G>T" "r.(?)" "p.?" "" "0000152691" "00026113" "90" "1316" "-195" "1129750" "0" "c.1316-195_*1127737del" "r.?" "p.?" "" "0000249750" "00026113" "50" "551" "0" "551" "0" "c.551T>A" "r.(?)" "p.(Ile184Asn)" "" "0000255338" "00026113" "30" "1856" "-9" "1856" "-9" "c.1856-9T>C" "r.(?)" "p.(=)" "" "0000255339" "00026113" "30" "516" "8" "516" "8" "c.516+8T>G" "r.(?)" "p.(=)" "" "0000261797" "00026113" "50" "1091" "0" "1091" "0" "c.1091A>T" "r.(?)" "p.(Asp364Val)" "" "0000261798" "00026113" "50" "1459" "0" "1459" "0" "c.1459A>G" "r.(?)" "p.(Met487Val)" "" "0000261799" "00026113" "30" "1608" "0" "1608" "0" "c.1608A>G" "r.(?)" "p.(Leu536=)" "" "0000261800" "00026113" "30" "1626" "0" "1626" "0" "c.1626A>G" "r.(?)" "p.(Val542=)" "" "0000261801" "00026113" "10" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Asn153Ser)" "" "0000335164" "00026113" "50" "1391" "-7" "1391" "-7" "c.1391-7T>C" "r.(?)" "p.(=)" "" "0000335165" "00026113" "30" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Tyr442Cys)" "" "0000335166" "00026113" "10" "1261" "0" "1261" "0" "c.1261A>G" "r.(?)" "p.(Ile421Val)" "" "0000335167" "00026113" "30" "806" "3" "806" "3" "c.806+3A>G" "r.spl?" "p.?" "" "0000345167" "00026113" "90" "361" "0" "361" "0" "c.361G>T" "r.(?)" "p.(Glu121Ter)" "" "0000346509" "00026113" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(His23Tyr)" "" "0000350723" "00026113" "90" "1582" "1" "1582" "1" "c.1582+1G>A" "r.spl" "p.?" "" "0000392013" "00026113" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Asp338Asn)" "" "0000394021" "00026113" "50" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Pro420Leu)" "" "0000408018" "00026113" "90" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Ter)" "" "0000408019" "00026113" "90" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Pro334Leu)" "" "0000458891" "00026113" "50" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Tyr341Cys)" "" "0000572974" "00026113" "30" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Val591Ile)" "" "0000572975" "00026113" "10" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Tyr442Cys)" "" "0000572976" "00026113" "30" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Tyr341Cys)" "" "0000572977" "00026113" "50" "816" "0" "816" "0" "c.816C>G" "r.(?)" "p.(Asp272Glu)" "" "0000572978" "00026113" "30" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "0000572979" "00026113" "10" "806" "3" "806" "3" "c.806+3A>G" "r.spl?" "p.?" "" "0000572980" "00026113" "30" "806" "3" "806" "3" "c.806+3A>G" "r.spl?" "p.?" "" "0000572981" "00026113" "50" "403" "0" "403" "0" "c.403C>G" "r.(?)" "p.(Pro135Ala)" "" "0000572982" "00026113" "30" "90" "0" "90" "0" "c.90A>G" "r.(?)" "p.(Ile30Met)" "" "0000624374" "00026113" "30" "1476" "0" "1476" "0" "c.1476T>C" "r.(?)" "p.(Asn492=)" "" "0000624375" "00026113" "30" "1180" "0" "1180" "0" "c.1180A>G" "r.(?)" "p.(Asn394Asp)" "" "0000682020" "00026113" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Ala232=)" "" "0000683285" "00026113" "70" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Ter)" "" "0000728322" "00026113" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Val164Ile)" "" "0000787187" "00026113" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000824019" "00026113" "50" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000824020" "00026113" "50" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000866977" "00026113" "50" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Arg623Ter)" "" "0000866978" "00026113" "30" "1002" "10" "1002" "10" "c.1002+10G>T" "r.(?)" "p.(=)" "" "0000895874" "00026113" "70" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529His)" "" "0000895875" "00026113" "70" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Arg529Cys)" "" "0000970609" "00026113" "70" "1531" "0" "1531" "0" "c.1531del" "r.(?)" "p.(Cys511AlafsTer17)" "" "0000984385" "00026113" "70" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Arg411Ter)" "" "0001044038" "00026113" "30" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Gly465Ser)" "" "0001044039" "00026113" "30" "931" "-417" "931" "-417" "c.931-417G>T" "r.(?)" "p.(=)" "" "0001044040" "00026113" "30" "-13" "838" "-13" "838" "c.-13+838G>A" "r.(?)" "p.(=)" "" "0001070775" "00026113" "50" "1003" "-4" "1003" "-4" "c.1003-4T>C" "r.(?)" "p.(?)" "" "0001089888" "00026113" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Pro404Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007437" "0000000209" "0000007438" "0000000209" "0000007439" "0000000210" "0000009563" "0000000210" "0000009564" "0000000210" "0000009565" "0000000210" "0000015414" "0000093629" "0000152691" "0000171711" "0000392013" "0000173782" "0000394021" "0000184049" "0000408018" "0000184050" "0000408019" "0000226561" "0000458891" "0000308851" "0000683285" "0000375836" "0000787187" "0000393287" "0000824019" "0000393288" "0000824020" "0000476039" "0001070775" "0000486776" "0001089888"