### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAS1L) # 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}}" "LAS1L" "LAS1-like (S. cerevisiae)" "X" "q12" "unknown" "NG_016369.1" "UD_132118980308" "" "https://www.LOVD.nl/LAS1L" "" "1" "25726" "81887" "300964" "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" "https://databases.lovd.nl/shared/refseq/LAS1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-10-14 12:59:28" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000566" "LAS1L" "transcript variant 1" "003" "NM_031206.4" "" "NP_112483.1" "" "" "" "-91" "2398" "2205" "64732462" "64754686" "00000" "2012-09-13 12:33:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00771" "WTS" "Wilson-Turner syndrome" "XLR" "309585" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-12 18:23:41" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "LAS1L" "00771" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "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" "" "" "" "" "00173440" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183180" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 19 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRXS6/AU10" "00183181" "" "" "" "3" "" "00006" "{PMID:Hu 2016:25644381}" "family, 3 affected, 3 unaffected heterozygous carrier females" "M" "" "France" "" "0" "" "" "" "FamT50" "00295082" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00435162" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "259413" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173440" "00187" "00183180" "00187" "00183181" "00187" "00295082" "00198" "00435162" "00771" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00771, 01157 ## Count = 6 "{{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" "" "" "" "" "" "" "" "" "" "0000138304" "00187" "00173440" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143934" "00187" "00183180" "00006" "Familial, X-linked recessive" "" "mild-moderate intellectual disability, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, small/undescended testes/hypogonadism, tapering fingers" "" "" "" "" "" "" "" "" "" "WTS" "mental retardation" "" "0000143935" "00187" "00183181" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "WTS" "mental retardation" "" "0000325367" "00771" "00435162" "01164" "Unknown" "" "Intellectual disability, mild, Obesity, Tall stature, Depression, Autistic behavior, Motor delay, Short attention span" "" "" "22y" "" "" "" "" "" "" "" "" "" ## 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}}" "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" "" "" "0000174323" "00173440" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000184138" "00183180" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184139" "00183181" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000296250" "00295082" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000436636" "00435162" "1" "01164" "01164" "2023-06-01 14:24:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000174323" "GEMIN8" "0000184138" "LAS1L" "0000184139" "LAS1L" "0000436636" "LAS1L" ## 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 = 50 "{{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}}" "0000001982" "20" "50" "X" "64734446" "64734447" "del" "0" "00037" "LAS1L_000002" "g.64734446_64734447del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.65514566_65514567del" "" "VUS" "" "0000007022" "20" "50" "X" "64739077" "64739077" "subst" "0" "00037" "LAS1L_000004" "g.64739077G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.65519197G>A" "" "VUS" "" "0000009106" "20" "50" "X" "64734446" "64734447" "del" "0" "00037" "LAS1L_000002" "g.64734446_64734447del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.65514566_65514567del" "" "VUS" "" "0000009107" "20" "50" "X" "64739077" "64739077" "subst" "0" "00037" "LAS1L_000004" "g.64739077G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.65519197G>A" "" "VUS" "" "0000011006" "0" "50" "X" "64734430" "64734430" "del" "0" "00037" "LAS1L_000007" "g.64734430del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.65514550del" "" "VUS" "" "0000255141" "0" "30" "X" "64738103" "64738103" "subst" "0.000314525" "01943" "LAS1L_000012" "g.64738103A>G" "" "" "" "LAS1L(NM_031206.4):c.1691T>C (p.V564A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65518223A>G" "" "likely benign" "" "0000290880" "0" "30" "X" "64744455" "64744455" "subst" "0" "01943" "LAS1L_000014" "g.64744455G>C" "" "" "" "LAS1L(NM_031206.4):c.1082C>G (p.P361R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65524575G>C" "" "likely benign" "" "0000290881" "0" "30" "X" "64744027" "64744027" "subst" "0.000210431" "01943" "LAS1L_000013" "g.64744027G>C" "" "" "" "LAS1L(NM_001375335.1):c.1209C>G (p.L403=), LAS1L(NM_031206.4):c.1209C>G (p.L403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65524147G>C" "" "likely benign" "" "0000290882" "0" "30" "X" "64737944" "64737944" "subst" "1.70197E-5" "01943" "LAS1L_000010" "g.64737944G>T" "" "" "" "LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):c.1850C>A (p.S617Y), LAS1L(NM_031206.7):c.1850C>A (p.S617Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65518064G>T" "" "likely benign" "" "0000290883" "0" "30" "X" "64749093" "64749093" "subst" "1.12269E-5" "01943" "LAS1L_000015" "g.64749093G>A" "" "" "" "LAS1L(NM_031206.4):c.845C>T (p.T282M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65529213G>A" "" "likely benign" "" "0000334426" "0" "50" "X" "64738006" "64738008" "del" "0" "01804" "LAS1L_000011" "g.64738006_64738008del" "" "" "" "LAS1L(NM_001170649.1):c.1740_1742del (p.(Asp580del)), LAS1L(NM_031206.4):c.1791_1793delTGA (p.D597del), LAS1L(NM_031206.7):c.1791_1793delTGA (p.D5...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65518126_65518128del" "" "VUS" "" "0000401134" "1" "50" "X" "64749132" "64749132" "subst" "0" "00124" "LAS1L_000016" "g.64749132G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A269G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.65529252G>C" "" "VUS" "" "0000408107" "21" "90" "X" "64749132" "64749132" "subst" "0" "00006" "LAS1L_000016" "g.64749132G>C" "" "{PMID:Hu 2016:25644381}" "" "Ala269Gly" "" "Germline" "yes" "" "0" "" "" "g.65529252G>C" "" "pathogenic (recessive)" "" "0000408108" "21" "90" "X" "64743993" "64743993" "subst" "0" "00006" "LAS1L_000017" "g.64743993G>A" "" "{PMID:Hu 2016:25644381}" "" "Arg415Trp" "" "Germline" "yes" "" "0" "" "" "g.65524113G>A" "" "pathogenic (recessive)" "" "0000576955" "0" "30" "X" "64737944" "64737944" "subst" "1.70197E-5" "01804" "LAS1L_000010" "g.64737944G>T" "" "" "" "LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):c.1850C>A (p.S617Y), LAS1L(NM_031206.7):c.1850C>A (p.S617Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65518064G>T" "" "likely benign" "" "0000576957" "0" "50" "X" "64743447" "64743447" "subst" "0" "02327" "LAS1L_000019" "g.64743447G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65523567G>A" "" "VUS" "" "0000576958" "0" "30" "X" "64749566" "64749566" "subst" "0" "01943" "LAS1L_000020" "g.64749566G>C" "" "" "" "LAS1L(NM_031206.4):c.707C>G (p.T236R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65529686G>C" "" "likely benign" "" "0000576959" "0" "30" "X" "64749624" "64749624" "subst" "0" "01943" "LAS1L_000021" "g.64749624T>C" "" "" "" "LAS1L(NM_031206.4):c.649A>G (p.I217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65529744T>C" "" "likely benign" "" "0000619771" "0" "30" "X" "64738006" "64738008" "del" "0" "01943" "LAS1L_000011" "g.64738006_64738008del" "" "" "" "LAS1L(NM_001170649.1):c.1740_1742del (p.(Asp580del)), LAS1L(NM_031206.4):c.1791_1793delTGA (p.D597del), LAS1L(NM_031206.7):c.1791_1793delTGA (p.D5...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65518126_65518128del" "" "likely benign" "" "0000619772" "0" "30" "X" "64738006" "64738008" "del" "0" "02325" "LAS1L_000011" "g.64738006_64738008del" "" "" "" "LAS1L(NM_001170649.1):c.1740_1742del (p.(Asp580del)), LAS1L(NM_031206.4):c.1791_1793delTGA (p.D597del), LAS1L(NM_031206.7):c.1791_1793delTGA (p.D5...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65518126_65518128del" "" "likely benign" "" "0000619773" "0" "30" "X" "64743955" "64743955" "subst" "0" "01943" "LAS1L_000023" "g.64743955G>A" "" "" "" "LAS1L(NM_031206.4):c.1281C>T (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65524075G>A" "" "likely benign" "" "0000619774" "0" "30" "X" "64754591" "64754591" "subst" "0.000144855" "01943" "LAS1L_000024" "g.64754591G>A" "" "" "" "LAS1L(NM_031206.4):c.5C>T (p.S2L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65534711G>A" "" "likely benign" "" "0000624684" "0" "30" "X" "64738059" "64738059" "subst" "0.000265053" "01943" "LAS1L_000022" "g.64738059C>T" "" "" "" "LAS1L(NM_031206.4):c.1735G>A (p.V579I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65518179C>T" "" "likely benign" "" "0000652939" "1" "70" "X" "64743458" "64743458" "subst" "0" "03575" "LAS1L_000025" "g.64743458C>T" "13/2654 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs797044926}" "Germline" "" "rs797044926" "0" "" "" "g.65523578C>T" "" "likely pathogenic" "" "0000659409" "0" "30" "X" "64743517" "64743517" "subst" "5.92331E-5" "01943" "LAS1L_000026" "g.64743517G>A" "" "" "" "LAS1L(NM_031206.4):c.1371C>T (p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65523637G>A" "" "likely benign" "" "0000659410" "0" "50" "X" "64753499" "64753499" "subst" "0" "02327" "LAS1L_000027" "g.64753499G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65533619G>A" "" "VUS" "" "0000659411" "0" "30" "X" "64754464" "64754464" "subst" "0.000120653" "01943" "LAS1L_000028" "g.64754464G>A" "" "" "" "LAS1L(NM_031206.4):c.132C>T (p.A44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65534584G>A" "" "likely benign" "" "0000682573" "0" "50" "X" "64738290" "64738290" "subst" "5.63742E-6" "01943" "LAS1L_000029" "g.64738290G>A" "" "" "" "LAS1L(NM_031206.4):c.1504C>T (p.R502C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693689" "0" "30" "X" "64738155" "64738155" "subst" "1.6805E-5" "01943" "LAS1L_000030" "g.64738155C>T" "" "" "" "LAS1L(NM_031206.4):c.1639G>A (p.G547R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693690" "0" "30" "X" "64749627" "64749627" "subst" "2.23725E-5" "01943" "LAS1L_000031" "g.64749627T>C" "" "" "" "LAS1L(NM_031206.4):c.646A>G (p.N216D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693691" "0" "30" "X" "64753510" "64753510" "subst" "0" "02330" "LAS1L_000032" "g.64753510G>C" "" "" "" "LAS1L(NM_031206.4):c.342C>G (p.L114=), LAS1L(NM_031206.7):c.342C>G (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693692" "0" "30" "X" "64753510" "64753510" "subst" "0" "01943" "LAS1L_000032" "g.64753510G>C" "" "" "" "LAS1L(NM_031206.4):c.342C>G (p.L114=), LAS1L(NM_031206.7):c.342C>G (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729109" "0" "50" "X" "64732698" "64732698" "subst" "0" "02325" "LAS1L_000033" "g.64732698T>G" "" "" "" "LAS1L(NM_031206.7):c.2162A>C (p.Q721P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729110" "0" "30" "X" "64737883" "64737883" "subst" "7.86002E-5" "02330" "LAS1L_000034" "g.64737883T>C" "" "" "" "LAS1L(NM_031206.7):c.1911A>G (p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729111" "0" "30" "X" "64738006" "64738014" "del" "0" "02325" "LAS1L_000035" "g.64738006_64738014del" "" "" "" "LAS1L(NM_031206.7):c.1797_1805delTGATGAAGA (p.D599_E601del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729112" "0" "30" "X" "64749565" "64749565" "subst" "4.47457E-5" "01943" "LAS1L_000036" "g.64749565C>T" "" "" "" "LAS1L(NM_031206.4):c.708G>A (p.T236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810587" "0" "30" "X" "64743967" "64743967" "subst" "4.54391E-5" "01943" "LAS1L_000037" "g.64743967G>A" "" "" "" "LAS1L(NM_031206.4):c.1269C>T (p.T423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810588" "0" "30" "X" "64743988" "64743988" "subst" "4.53127E-5" "01943" "LAS1L_000038" "g.64743988A>T" "" "" "" "LAS1L(NM_031206.4):c.1248T>A (p.P416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867501" "0" "30" "X" "64748149" "64748149" "subst" "0" "01943" "LAS1L_000039" "g.64748149C>T" "" "" "" "LAS1L(NM_031206.4):c.947G>A (p.C316Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867502" "0" "30" "X" "64749634" "64749634" "subst" "1.1186E-5" "01943" "LAS1L_000040" "g.64749634T>C" "" "" "" "LAS1L(NM_031206.4):c.639A>G (p.E213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896320" "0" "50" "X" "64734711" "64734711" "subst" "0" "01804" "LAS1L_000041" "g.64734711G>T" "" "" "" "LAS1L(NM_001170649.1):c.2019C>A (p.(Cys673*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896321" "0" "50" "X" "64743498" "64743498" "subst" "0" "02325" "LAS1L_000042" "g.64743498G>A" "" "" "" "LAS1L(NM_031206.7):c.1390C>T (p.R464W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927702" "0" "50" "X" "64743999" "64743999" "subst" "0" "01164" "LAS1L_000043" "g.64743999C>T" "" "PMID: 34653234" "" "" "ACMG: PS4_SUP, PM2_SUP, PP2; BP4" "Germline" "?" "" "" "" "" "g.65524119C>T" "VCV000666263.1" "VUS (!)" "ACMG" "0000951785" "0" "30" "X" "64738168" "64738168" "subst" "0" "02330" "LAS1L_000044" "g.64738168G>A" "" "" "" "LAS1L(NM_031206.7):c.1626C>T (p.A542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971256" "0" "10" "X" "64744027" "64744027" "subst" "0.000210431" "02330" "LAS1L_000013" "g.64744027G>C" "" "" "" "LAS1L(NM_001375335.1):c.1209C>G (p.L403=), LAS1L(NM_031206.4):c.1209C>G (p.L403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984805" "0" "30" "X" "64742472" "64742472" "subst" "0" "01804" "LAS1L_000045" "g.64742472G>C" "" "" "" "LAS1L(NM_031206.7):c.1448+968C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006906" "0" "50" "X" "64744494" "64744494" "subst" "0" "01804" "LAS1L_000046" "g.64744494T>A" "" "" "" "LAS1L(NM_031206.4):c.1043A>T (p.(Asp348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006907" "0" "30" "X" "64749599" "64749599" "subst" "5.59284E-6" "01804" "LAS1L_000047" "g.64749599T>C" "" "" "" "LAS1L(NM_031206.4):c.674A>G (p.(Gln225Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016051" "0" "30" "X" "64741165" "64741165" "subst" "0" "02330" "LAS1L_000048" "g.64741165G>A" "" "" "" "LAS1L(NM_001375330.1):c.1454C>T (p.A485V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027520" "0" "30" "X" "64737944" "64737944" "subst" "1.70197E-5" "02330" "LAS1L_000010" "g.64737944G>T" "" "" "" "LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):c.1850C>A (p.S617Y), LAS1L(NM_031206.7):c.1850C>A (p.S617Y)" "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 LAS1L ## Count = 50 "{{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}}" "0000001982" "00000566" "50" "2078" "287" "2078" "288" "c.2078+287_2078+288del" "r.(=)" "p.(=)" "" "0000007022" "00000566" "50" "1449" "-732" "1449" "-732" "c.1449-732C>T" "r.(=)" "p.(=)" "" "0000009106" "00000566" "50" "2078" "287" "2078" "288" "c.2078+287_2078+288del" "r.(=)" "p.(=)" "" "0000009107" "00000566" "50" "1449" "-732" "1449" "-732" "c.1449-732C>T" "r.(=)" "p.(=)" "" "0000011006" "00000566" "50" "2078" "273" "2078" "273" "c.2078+273del" "r.(=)" "p.(=)" "" "0000255141" "00000566" "30" "1691" "0" "1691" "0" "c.1691T>C" "r.(?)" "p.(Val564Ala)" "" "0000290880" "00000566" "30" "1082" "0" "1082" "0" "c.1082C>G" "r.(?)" "p.(Pro361Arg)" "" "0000290881" "00000566" "30" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Leu403=)" "" "0000290882" "00000566" "30" "1850" "0" "1850" "0" "c.1850C>A" "r.(?)" "p.(Ser617Tyr)" "" "0000290883" "00000566" "30" "845" "0" "845" "0" "c.845C>T" "r.(?)" "p.(Thr282Met)" "" "0000334426" "00000566" "50" "1791" "0" "1793" "0" "c.1791_1793del" "r.(?)" "p.(Asp597del)" "" "0000401134" "00000566" "50" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Ala269Gly)" "6" "0000408107" "00000566" "90" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Ala269Gly)" "6" "0000408108" "00000566" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "10" "0000576955" "00000566" "30" "1850" "0" "1850" "0" "c.1850C>A" "r.(?)" "p.(Ser617Tyr)" "" "0000576957" "00000566" "50" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Leu481Phe)" "" "0000576958" "00000566" "30" "707" "0" "707" "0" "c.707C>G" "r.(?)" "p.(Thr236Arg)" "" "0000576959" "00000566" "30" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ile217Val)" "" "0000619771" "00000566" "30" "1791" "0" "1793" "0" "c.1791_1793del" "r.(?)" "p.(Asp597del)" "" "0000619772" "00000566" "30" "1791" "0" "1793" "0" "c.1791_1793del" "r.(?)" "p.(Asp597del)" "" "0000619773" "00000566" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Ile427=)" "" "0000619774" "00000566" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ser2Leu)" "" "0000624684" "00000566" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Ile)" "" "0000652939" "00000566" "70" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Ser477Asn)" "" "0000659409" "00000566" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Ser457=)" "" "0000659410" "00000566" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Ala118Val)" "" "0000659411" "00000566" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Ala44=)" "" "0000682573" "00000566" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Cys)" "" "0000693689" "00000566" "30" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Gly547Arg)" "" "0000693690" "00000566" "30" "646" "0" "646" "0" "c.646A>G" "r.(?)" "p.(Asn216Asp)" "" "0000693691" "00000566" "30" "342" "0" "342" "0" "c.342C>G" "r.(?)" "p.(Leu114=)" "" "0000693692" "00000566" "30" "342" "0" "342" "0" "c.342C>G" "r.(?)" "p.(Leu114=)" "" "0000729109" "00000566" "50" "2162" "0" "2162" "0" "c.2162A>C" "r.(?)" "p.(Gln721Pro)" "" "0000729110" "00000566" "30" "1911" "0" "1911" "0" "c.1911A>G" "r.(?)" "p.(Ala637=)" "" "0000729111" "00000566" "30" "1797" "0" "1805" "0" "c.1797_1805del" "r.(?)" "p.(Asp599_Glu601del)" "" "0000729112" "00000566" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Thr236=)" "" "0000810587" "00000566" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Thr423=)" "" "0000810588" "00000566" "30" "1248" "0" "1248" "0" "c.1248T>A" "r.(?)" "p.(Pro416=)" "" "0000867501" "00000566" "30" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Cys316Tyr)" "" "0000867502" "00000566" "30" "639" "0" "639" "0" "c.639A>G" "r.(?)" "p.(Glu213=)" "" "0000896320" "00000566" "50" "2070" "0" "2070" "0" "c.2070C>A" "r.(?)" "p.(Cys690*)" "" "0000896321" "00000566" "50" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464Trp)" "" "0000927702" "00000566" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Gly413Arg)" "10" "0000951785" "00000566" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(=)" "" "0000971256" "00000566" "10" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Leu403=)" "" "0000984805" "00000566" "30" "1448" "968" "1448" "968" "c.1448+968C>G" "r.(=)" "p.(=)" "" "0001006906" "00000566" "50" "1043" "0" "1043" "0" "c.1043A>T" "r.(?)" "p.(Asp348Val)" "" "0001006907" "00000566" "30" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Gln225Arg)" "" "0001016051" "00000566" "30" "1448" "2275" "1448" "2275" "c.1448+2275C>T" "r.(=)" "p.(=)" "" "0001027520" "00000566" "30" "1850" "0" "1850" "0" "c.1850C>A" "r.(?)" "p.(Ser617Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001982" "0000000209" "0000007022" "0000000210" "0000009106" "0000000210" "0000009107" "0000000210" "0000011006" "0000174323" "0000401134" "0000184138" "0000408107" "0000184139" "0000408108" "0000296250" "0000652939" "0000436636" "0000927702"