### LOVD-version 3000-28d ### 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" "2023-01-11 15:44:22" ## 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 = 3 "{{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" "2016-10-22 17:54:40" "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 = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "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" "" "" "" "0" "" "" "" "25644381-FamT50" "00295082" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173440" "00187" "00183180" "00187" "00183181" "00187" "00295082" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157 ## Count = 5 "{{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" "" "Wilson-Turner syndrome,66 mild to moderate ID, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, small/undescended testes/hypogonadism, tapering fingers" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143935" "00187" "00183181" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{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" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000174323" "GEMIN8" "0000184138" "LAS1L" "0000184139" "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 = 42 "{{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_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" "0.0000170197" "01943" "LAS1L_000010" "g.64737944G>T" "" "" "" "LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):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" "0.0000112269" "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" "0.0000170197" "01804" "LAS1L_000010" "g.64737944G>T" "" "" "" "LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):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" "0.0000592331" "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" "0.00000563742" "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" "0.000016805" "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" "0.0000223725" "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" "0.0000786002" "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" "0.0000447457" "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" "0.0000454391" "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" "0.0000453127" "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" "0.000011186" "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" "" ## 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 = 42 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001982" "0000000209" "0000007022" "0000000210" "0000009106" "0000000210" "0000009107" "0000000210" "0000011006" "0000174323" "0000401134" "0000184138" "0000408107" "0000184139" "0000408108" "0000296250" "0000652939"