### 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" "00000" "2025-05-05 21:14:00" ## 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}}" "00024213" "ACSL4" "transcript variant 2" "002" "NM_022977.2" "" "NP_075266.1" "" "" "" "-505" "4830" "2136" "108976621" "108884564" "00006" "2016-12-29 12:13:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "01125" "MRX63" "mental retardation, X-linked, type 63 (MRX63)" "XLD" "300387" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 12 "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01125, 01157, 05132 ## Count = 9 "{{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/Lung}}" "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{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" ## 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 = 54 "{{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 1998:09480748}" "" "COL4A5 IVS2_ACSL4 IVS12 del" "fusion transcript COL4A5_ACSL4" "Germline" "" "" "0" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "likely benign" "" "0000787187" "0" "50" "X" "0" "0" "" "0" "00006" "USP9X_000005" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1181A>G (Asn394Ser)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000824019" "21" "50" "X" "108906532" "108906532" "subst" "1.68518E-5" "02494" "ACSL4_000037" "g.108906532G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000824020" "21" "50" "X" "108906532" "108906532" "subst" "1.68518E-5" "02494" "ACSL4_000037" "g.108906532G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "likely benign" "" "0000895874" "0" "70" "X" "108904871" "108904871" "subst" "0" "02327" "ACSL4_000040" "g.108904871C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895875" "0" "70" "X" "108904872" "108904872" "subst" "0" "02327" "ACSL4_000041" "g.108904872G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984385" "0" "70" "X" "108911414" "108911414" "subst" "0" "02327" "ACSL4_000044" "g.108911414G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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 ACSL4 ## Count = 54 "{{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" "00024213" "00" "1820" "31" "1820" "31" "c.1820+31G>A" "r.(=)" "p.(=)" "15i" "0000007438" "00024213" "00" "1054" "-55" "1054" "-55" "c.1054-55A>G" "r.(=)" "p.(=)" "9i" "0000007439" "00024213" "00" "1054" "-71" "1054" "-71" "c.1054-71T>C" "r.(=)" "p.(=)" "9i" "0000009563" "00024213" "00" "1820" "31" "1820" "31" "c.1820+31G>A" "r.(=)" "p.(=)" "15i" "0000009564" "00024213" "00" "1054" "-55" "1054" "-55" "c.1054-55A>G" "r.(=)" "p.(=)" "9i" "0000009565" "00024213" "00" "1054" "-71" "1054" "-71" "c.1054-71T>C" "r.(=)" "p.(=)" "9i" "0000015414" "00024213" "00" "779" "-342" "779" "-342" "c.779-342G>T" "r.(=)" "p.(=)" "7i" "0000152691" "00024213" "90" "1439" "-195" "1129873" "0" "c.1439-195_*1127737del" "r.?" "p.?" "12i" "0000249750" "00024213" "50" "674" "0" "674" "0" "c.674T>A" "r.(?)" "p.(Ile225Asn)" "" "0000255338" "00024213" "30" "1979" "-9" "1979" "-9" "c.1979-9T>C" "r.(=)" "p.(=)" "" "0000255339" "00024213" "30" "639" "8" "639" "8" "c.639+8T>G" "r.(=)" "p.(=)" "" "0000261797" "00024213" "50" "1214" "0" "1214" "0" "c.1214A>T" "r.(?)" "p.(Asp405Val)" "" "0000261798" "00024213" "50" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Met528Val)" "" "0000261799" "00024213" "30" "1731" "0" "1731" "0" "c.1731A>G" "r.(?)" "p.(Leu577=)" "" "0000261800" "00024213" "30" "1749" "0" "1749" "0" "c.1749A>G" "r.(?)" "p.(Val583=)" "" "0000261801" "00024213" "10" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Asn194Ser)" "" "0000335164" "00024213" "50" "1514" "-7" "1514" "-7" "c.1514-7T>C" "r.(=)" "p.(=)" "" "0000335165" "00024213" "30" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Tyr483Cys)" "" "0000335166" "00024213" "10" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" "0000335167" "00024213" "30" "929" "3" "929" "3" "c.929+3A>G" "r.spl?" "p.?" "" "0000345167" "00024213" "90" "484" "0" "484" "0" "c.484G>T" "r.(?)" "p.(Glu162Ter)" "" "0000346509" "00024213" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(His64Tyr)" "" "0000350723" "00024213" "90" "1705" "1" "1705" "1" "c.1705+1G>A" "r.spl?" "p.?" "" "0000392013" "00024213" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Asp379Asn)" "" "0000394021" "00024213" "50" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Pro461Leu)" "" "0000408018" "00024213" "00" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654*)" "" "0000408019" "00024213" "00" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Pro375Leu)" "" "0000458891" "00024213" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Tyr382Cys)" "" "0000572974" "00024213" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Val632Ile)" "" "0000572975" "00024213" "10" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Tyr483Cys)" "" "0000572976" "00024213" "30" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Tyr382Cys)" "" "0000572977" "00024213" "50" "939" "0" "939" "0" "c.939C>G" "r.(?)" "p.(Asp313Glu)" "" "0000572978" "00024213" "30" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Pro311Leu)" "" "0000572979" "00024213" "10" "929" "3" "929" "3" "c.929+3A>G" "r.spl?" "p.?" "" "0000572980" "00024213" "30" "929" "3" "929" "3" "c.929+3A>G" "r.spl?" "p.?" "" "0000572981" "00024213" "50" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "" "0000572982" "00024213" "30" "213" "0" "213" "0" "c.213A>G" "r.(?)" "p.(Ile71Met)" "" "0000624374" "00024213" "30" "1599" "0" "1599" "0" "c.1599T>C" "r.(?)" "p.(Asn533=)" "" "0000624375" "00024213" "30" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.(Asn435Asp)" "" "0000682020" "00024213" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Ala273=)" "" "0000683285" "00024213" "70" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654*)" "" "0000728322" "00024213" "30" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Ile)" "" "0000787187" "00024213" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "11" "0000824019" "00024213" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Ala538Val)" "" "0000824020" "00024213" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Ala538Val)" "" "0000866977" "00024213" "50" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Arg664*)" "" "0000866978" "00024213" "30" "1125" "10" "1125" "10" "c.1125+10G>T" "r.(=)" "p.(=)" "" "0000895874" "00024213" "70" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Arg570His)" "" "0000895875" "00024213" "70" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Cys)" "" "0000970609" "00024213" "70" "1654" "0" "1654" "0" "c.1654del" "r.(?)" "p.(Cys552Alafs*17)" "" "0000984385" "00024213" "70" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452*)" "" "0001044038" "00024213" "30" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Gly506Ser)" "" "0001044039" "00024213" "30" "1054" "-417" "1054" "-417" "c.1054-417G>T" "r.(=)" "p.(=)" "" "0001044040" "00024213" "30" "-199" "838" "-199" "838" "c.-199+838G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{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"