### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = L1CAM) # 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}}" "L1CAM" "L1 cell adhesion molecule" "X" "q28" "unknown" "NC_000023.10" "UD_132118696163" "" "https://www.LOVD.nl/L1CAM" "" "1" "6470" "3897" "308840" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/L1CAM_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-04-07 16:40:34" "00000" "2021-09-17 14:40:49" ## 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}}" "00025606" "L1CAM" "transcript variant 1" "002" "NM_000425.4" "" "NP_000416.1" "" "" "" "-209" "4923" "3774" "153141500" "153126969" "00006" "2021-04-07 16:41:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "2016-10-22 17:54:40" "01080" "HSAS" "hydrocephalus, with congenital stenosis of aqueduct of Sylvis (HSAS, hydrocephalus with Hirschsprung disease)" "XLR" "307000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-09-08 13:29:04" "01081" "MASA" "syndrome, MASA (mental retardation, aphasia, shuffling gait, adducted thumbs; CRASH syndrome)" "XLR" "303350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-09-08 13:30:51" "01082" "agenesis..." "agenesis, corpus callosum, partial, X-linked" "XLR" "304100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-09-08 13:31:38" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "L1CAM" "00139" "L1CAM" "01080" "L1CAM" "01081" "L1CAM" "01082" ## 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" "" "" "" "" "00143195" "" "" "" "1" "" "02335" "" "" "M" "?" "" "" "0" "" "" "" "" "00183108" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU30" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00294963" "" "" "" "85" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294964" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305270" "" "" "" "70" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305271" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361485" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1468" "00361922" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "178889" "00374360" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-80" "00374361" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4873" "00381535" "" "" "" "3" "cc_by_4.0;0" "04157" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "04157" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00143195" "01080" "00183108" "00187" "00183137" "00187" "00294963" "00198" "00294964" "00198" "00305270" "00198" "00305271" "00198" "00361485" "00139" "00361922" "01080" "00374360" "00198" "00374361" "00198" "00381535" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01080, 01081, 01082, 01157 ## Count = 10 "{{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" "" "" "" "" "" "" "" "" "" "0000115946" "01080" "00143195" "02335" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143862" "00187" "00183108" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000256890" "00139" "00361485" "00006" "Unknown" "13y" "not syndromic; intellectual disability, macrocephaly, seizures and brain atrophy" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257320" "01080" "00361922" "01164" "Unknown" "" "prenatal ultrasound abnormalities: (+) Hydrocephalus,(+) Abnormality of prenatal development or birth" "" "" "" "" "" "" "" "" "" "" "" "" "0000269570" "00198" "00374360" "00006" "Familial, X-linked" "" "Hydrocephalus, aqueductal stenosis and adducted thumb" "" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000269571" "00198" "00374361" "00006" "Familial, X-linked" "" "Plagiocephaly, hypertelorism, depressed nasal bridge, midfacial hypoplasia and adducted thumb" "" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000276003" "00198" "00381535" "04157" "Familial, X-linked recessive" "" "prenatal ultrasound abnormalities hydrocephalus（+）" "<00y00m01d" "" "" "hydrocephalus" "" "" "" "" "" "" "hydrocephalus" "" ## 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" "" "" "0000144052" "00143195" "1" "02335" "02335" "2017-11-30 11:19:15" "" "" "SEQ" "DNA" "cultured amniotic cells" "" "0000184066" "00183108" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000296131" "00294963" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296132" "00294964" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306399" "00305270" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306400" "00305271" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362713" "00361485" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000363150" "00361922" "1" "01164" "01164" "2021-04-12 13:27:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000375554" "00374360" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375555" "00374361" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382749" "00381535" "1" "04157" "04157" "2021-08-31 09:01:07" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000144052" "L1CAM" "0000184066" "L1CAM" "0000184095" "MECP2" "0000362713" "L1CAM" "0000363150" "L1CAM" "0000375554" "L1CAM" "0000375555" "L1CAM" ## 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 = 104 "{{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}}" "0000008042" "20" "50" "X" "153129556" "153129556" "subst" "0" "00037" "L1CAM_000001" "g.153129556G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153864101G>A" "" "VUS" "" "0000008043" "20" "50" "X" "153134521" "153134521" "subst" "0" "00037" "L1CAM_000004" "g.153134521G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153869066=" "" "VUS" "" "0000010211" "20" "50" "X" "153129556" "153129556" "subst" "0" "00037" "L1CAM_000001" "g.153129556G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153864101G>A" "" "VUS" "" "0000010212" "20" "50" "X" "153134521" "153134521" "subst" "0" "00037" "L1CAM_000004" "g.153134521G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153869066=" "" "VUS" "" "0000234489" "20" "70" "X" "153132512" "153132512" "subst" "0" "02335" "L1CAM_000005" "g.153132512C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153867057C>T" "" "likely pathogenic" "" "0000254969" "0" "30" "X" "153128202" "153128202" "subst" "0.0000282432" "01943" "L1CAM_000007" "g.153128202A>G" "" "" "" "L1CAM(NM_001278116.1):c.3690T>C (p.S1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153862747A>G" "" "likely benign" "" "0000281952" "0" "30" "X" "153132324" "153132324" "subst" "0.00171698" "02325" "L1CAM_000018" "g.153132324C>T" "" "" "" "L1CAM(NM_001278116.1):c.2211G>A (p.P737=), L1CAM(NM_001278116.2):c.2211G>A (p.P737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866869C>T" "" "likely benign" "" "0000281953" "0" "30" "X" "153132233" "153132233" "subst" "0.00217316" "02325" "L1CAM_000016" "g.153132233C>T" "" "" "" "L1CAM(NM_000425.3):c.2302G>A (p.(Val768Ile)), L1CAM(NM_000425.4):c.2302G>A (p.V768I), L1CAM(NM_001278116.2):c.2302G>A (p.V768I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866778C>T" "" "likely benign" "" "0000290587" "0" "10" "X" "153134417" "153134417" "subst" "0.00938406" "01943" "L1CAM_000024" "g.153134417G>A" "" "" "" "L1CAM(NM_000425.4):c.1268-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153868962G>A" "" "benign" "" "0000290588" "0" "50" "X" "153134148" "153134148" "subst" "0.00000560922" "01943" "L1CAM_000023" "g.153134148C>T" "" "" "" "L1CAM(NM_001278116.1):c.1414G>A (p.E472K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153868693C>T" "" "VUS" "" "0000290589" "0" "50" "X" "153132955" "153132955" "subst" "0.000257266" "01943" "L1CAM_000020" "g.153132955G>C" "" "" "" "L1CAM(NM_001278116.1):c.1993C>G (p.L665V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153867500G>C" "" "VUS" "" "0000290590" "0" "10" "X" "153132332" "153132332" "subst" "0.0144121" "01943" "L1CAM_000019" "g.153132332G>A" "" "" "" "L1CAM(NM_000425.4):c.2209-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866877G>A" "" "benign" "" "0000290591" "0" "10" "X" "153132324" "153132324" "subst" "0.00171698" "01943" "L1CAM_000018" "g.153132324C>T" "" "" "" "L1CAM(NM_001278116.1):c.2211G>A (p.P737=), L1CAM(NM_001278116.2):c.2211G>A (p.P737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866869C>T" "" "benign" "" "0000290592" "0" "30" "X" "153132240" "153132240" "subst" "0.00000560208" "01943" "L1CAM_000017" "g.153132240C>T" "" "" "" "L1CAM(NM_001278116.1):c.2295G>A (p.E765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866785C>T" "" "likely benign" "" "0000290593" "0" "30" "X" "153132233" "153132233" "subst" "0.00217316" "01943" "L1CAM_000016" "g.153132233C>T" "" "" "" "L1CAM(NM_000425.3):c.2302G>A (p.(Val768Ile)), L1CAM(NM_000425.4):c.2302G>A (p.V768I), L1CAM(NM_001278116.2):c.2302G>A (p.V768I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866778C>T" "" "likely benign" "" "0000290594" "0" "10" "X" "153132228" "153132228" "subst" "0.00451954" "01943" "L1CAM_000015" "g.153132228G>A" "" "" "" "L1CAM(NM_000425.4):c.2307C>T (p.S769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866773G>A" "" "benign" "" "0000290595" "0" "50" "X" "153132133" "153132133" "subst" "0" "01943" "L1CAM_000014" "g.153132133T>C" "" "" "" "L1CAM(NM_001278116.1):c.2402A>G (p.Q801R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866678T>C" "" "VUS" "" "0000290596" "0" "30" "X" "153130950" "153130950" "subst" "0.00000561026" "01943" "L1CAM_000013" "g.153130950C>T" "" "" "" "L1CAM(NM_001278116.1):c.2553G>A (p.T851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153865495C>T" "" "likely benign" "" "0000290597" "0" "50" "X" "153137714" "153137714" "subst" "0.0000111903" "01943" "L1CAM_000036" "g.153137714G>A" "" "" "" "L1CAM(NM_000425.4):c.293C>T (p.T98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153872259G>A" "" "VUS" "" "0000290598" "0" "30" "X" "153130125" "153130125" "subst" "0.000246141" "01943" "L1CAM_000012" "g.153130125C>A" "" "" "" "L1CAM(NM_001278116.1):c.3081G>T (p.A1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153864670C>A" "" "likely benign" "" "0000290599" "0" "30" "X" "153129351" "153129351" "subst" "0" "01943" "L1CAM_000010" "g.153129351G>A" "" "" "" "L1CAM(NM_001278116.1):c.3444C>T (p.G1148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153863896G>A" "" "likely benign" "" "0000290600" "0" "30" "X" "153137656" "153137656" "subst" "0.0000671569" "01943" "L1CAM_000034" "g.153137656G>A" "" "" "" "L1CAM(NM_001278116.1):c.351C>T (p.S117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153872201G>A" "" "likely benign" "" "0000290601" "0" "30" "X" "153128343" "153128343" "subst" "0.000940992" "01943" "L1CAM_000009" "g.153128343G>A" "" "" "" "L1CAM(NM_000425.4):c.3549C>T (p.N1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153862888G>A" "" "likely benign" "" "0000290602" "0" "30" "X" "153137641" "153137641" "subst" "0.0000111985" "01943" "L1CAM_000033" "g.153137641G>A" "" "" "" "L1CAM(NM_001278116.1):c.366C>T (p.T122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153872186G>A" "" "likely benign" "" "0000290603" "0" "30" "X" "153128187" "153128187" "subst" "0.0000734285" "01943" "L1CAM_000006" "g.153128187C>T" "" "" "" "L1CAM(NM_001278116.1):c.3705G>A (p.K1235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153862732C>T" "" "likely benign" "" "0000290604" "0" "30" "X" "153137616" "153137616" "subst" "0.000039261" "01943" "L1CAM_000032" "g.153137616T>C" "" "" "" "L1CAM(NM_000425.4):c.391A>G (p.M131V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153872161T>C" "" "likely benign" "" "0000290605" "0" "30" "X" "153136512" "153136512" "subst" "0.00000560014" "01943" "L1CAM_000031" "g.153136512T>G" "" "" "" "L1CAM(NM_001278116.1):c.523A>C (p.K175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153871057T>G" "" "likely benign" "" "0000290606" "0" "30" "X" "153136290" "153136290" "subst" "0.000251713" "01943" "L1CAM_000030" "g.153136290T>G" "" "" "" "L1CAM(NM_000425.4):c.649A>C (p.R217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153870835T>G" "" "likely benign" "" "0000290607" "0" "50" "X" "153135930" "153135930" "subst" "0" "01943" "L1CAM_000029" "g.153135930G>A" "" "" "" "L1CAM(NM_001278116.1):c.719C>T (p.P240L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153870475G>A" "" "VUS" "" "0000290608" "0" "10" "X" "153135647" "153135647" "subst" "0.0078502" "01943" "L1CAM_000028" "g.153135647G>A" "" "" "" "L1CAM(NM_000425.4):c.855C>T (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153870192G>A" "" "benign" "" "0000290609" "0" "30" "X" "153135518" "153135518" "subst" "0.000398713" "01943" "L1CAM_000027" "g.153135518G>A" "" "" "" "L1CAM(NM_001278116.1):c.984C>T (p.T328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153870063G>A" "" "likely benign" "" "0000290610" "0" "50" "X" "153135517" "153135517" "subst" "0" "01943" "L1CAM_000026" "g.153135517C>T" "" "" "" "L1CAM(NM_001278116.1):c.985G>A (p.V329M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153870062C>T" "" "VUS" "" "0000336091" "0" "30" "X" "153128291" "153128291" "subst" "0" "01804" "L1CAM_000008" "g.153128291G>A" "" "" "" "L1CAM(NM_000425.3):c.3601C>T (p.(Pro1201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153862836G>A" "" "likely benign" "" "0000336092" "0" "50" "X" "153129785" "153129785" "subst" "0.0000112201" "01804" "L1CAM_000011" "g.153129785T>C" "" "" "" "L1CAM(NM_000425.3):c.3314A>G (p.(Asn1105Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153864330T>C" "" "VUS" "" "0000336093" "0" "30" "X" "153132233" "153132233" "subst" "0.00217316" "01804" "L1CAM_000016" "g.153132233C>T" "" "" "" "L1CAM(NM_000425.3):c.2302G>A (p.(Val768Ile)), L1CAM(NM_000425.4):c.2302G>A (p.V768I), L1CAM(NM_001278116.2):c.2302G>A (p.V768I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153866778C>T" "" "likely benign" "" "0000336096" "0" "50" "X" "153133341" "153133341" "subst" "0" "01804" "L1CAM_000022" "g.153133341A>T" "" "" "" "L1CAM(NM_000425.3):c.1853T>A (p.(Leu618Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153867886A>T" "" "VUS" "" "0000336097" "0" "50" "X" "153135360" "153135360" "subst" "0" "01804" "L1CAM_000025" "g.153135360T>C" "" "" "" "L1CAM(NM_000425.3):c.1021A>G (p.(Ser341Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153869905T>C" "" "VUS" "" "0000342983" "0" "90" "X" "153134109" "153134109" "subst" "0" "02327" "L1CAM_000039" "g.153134109G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153868654G>A" "" "pathogenic" "" "0000344201" "0" "50" "X" "153130898" "153130898" "subst" "0" "02327" "L1CAM_000037" "g.153130898C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153865443C>T" "" "VUS" "" "0000348387" "0" "90" "X" "153135383" "153135383" "subst" "0" "02327" "L1CAM_000040" "g.153135383G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153869928G>A" "" "pathogenic" "" "0000348532" "0" "50" "X" "153133285" "153133285" "subst" "0" "02327" "L1CAM_000038" "g.153133285G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153867830G>A" "" "VUS" "" "0000350484" "0" "50" "X" "153135517" "153135517" "subst" "0" "02327" "L1CAM_000026" "g.153135517C>T" "" "" "" "L1CAM(NM_001278116.1):c.985G>A (p.V329M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153870062C>T" "" "VUS" "" "0000408035" "21" "90" "X" "153136335" "153136335" "subst" "0" "00006" "L1CAM_000041" "g.153136335C>T" "" "{PMID:Hu 2016:25644381}" "" "L1CAM D202N" "" "Germline" "yes" "" "0" "" "" "g.153870880C>T" "" "pathogenic" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574387" "0" "30" "X" "153128157" "153128157" "subst" "0.0000338956" "01943" "L1CAM_000042" "g.153128157C>T" "" "" "" "L1CAM(NM_001278116.1):c.3735G>A (p.G1245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153862702C>T" "" "likely benign" "" "0000574388" "0" "30" "X" "153128277" "153128277" "subst" "0.0000339236" "01943" "L1CAM_000043" "g.153128277G>A" "" "" "" "L1CAM(NM_001278116.1):c.3615C>T (p.D1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153862822G>A" "" "likely benign" "" "0000574389" "0" "50" "X" "153128303" "153128303" "subst" "0" "01943" "L1CAM_000044" "g.153128303C>G" "" "" "" "L1CAM(NM_000425.4):c.3589G>C (p.G1197R), L1CAM(NM_001278116.2):c.3589G>C (p.G1197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153862848C>G" "" "VUS" "" "0000574390" "0" "30" "X" "153128303" "153128303" "subst" "0" "02326" "L1CAM_000044" "g.153128303C>G" "" "" "" "L1CAM(NM_000425.4):c.3589G>C (p.G1197R), L1CAM(NM_001278116.2):c.3589G>C (p.G1197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153862848C>G" "" "likely benign" "" "0000574391" "0" "30" "X" "153129444" "153129444" "subst" "0" "01943" "L1CAM_000045" "g.153129444G>A" "" "" "" "L1CAM(NM_001278116.1):c.3351C>T (p.F1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153863989G>A" "" "likely benign" "" "0000574392" "0" "30" "X" "153129468" "153129468" "subst" "0.0000852137" "01943" "L1CAM_000046" "g.153129468G>A" "" "" "" "L1CAM(NM_001278116.1):c.3327C>T (p.R1109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153864013G>A" "" "likely benign" "" "0000574393" "0" "50" "X" "153129496" "153129496" "dup" "0" "01943" "L1CAM_000047" "g.153129496dup" "" "" "" "L1CAM(NM_000425.4):c.3323-19_3323-18insG, L1CAM(NM_001278116.2):c.3323-19dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153864041dup" "" "VUS" "" "0000574394" "0" "30" "X" "153129496" "153129496" "dup" "0" "02326" "L1CAM_000047" "g.153129496dup" "" "" "" "L1CAM(NM_000425.4):c.3323-19_3323-18insG, L1CAM(NM_001278116.2):c.3323-19dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153864041dup" "" "likely benign" "" "0000574395" "0" "50" "X" "153130356" "153130356" "subst" "0" "02329" "L1CAM_000048" "g.153130356T>C" "" "" "" "L1CAM(NM_001278116.2):c.2966A>G (p.Y989C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153864901T>C" "" "VUS" "" "0000574396" "0" "30" "X" "153130539" "153130539" "subst" "0" "01943" "L1CAM_000049" "g.153130539G>T" "" "" "" "L1CAM(NM_001278116.1):c.2872+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153865084G>T" "" "likely benign" "" "0000574397" "0" "30" "X" "153130781" "153130781" "subst" "0.000016922" "01943" "L1CAM_000050" "g.153130781C>T" "" "" "" "L1CAM(NM_001278116.1):c.2722G>A (p.E908K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153865326C>T" "" "likely benign" "" "0000574398" "0" "30" "X" "153130860" "153130860" "subst" "0" "01943" "L1CAM_000051" "g.153130860G>T" "" "" "" "L1CAM(NM_001278116.1):c.2643C>A (p.I881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153865405G>T" "" "likely benign" "" "0000574399" "0" "30" "X" "153130938" "153130938" "subst" "0.0000168227" "01943" "L1CAM_000052" "g.153130938C>A" "" "" "" "L1CAM(NM_001278116.1):c.2565G>T (p.E855D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153865483C>A" "" "likely benign" "" "0000574400" "0" "50" "X" "153131180" "153131180" "subst" "0" "02325" "L1CAM_000053" "g.153131180C>A" "" "" "" "L1CAM(NM_001278116.2):c.2526G>T (p.K842N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153865725C>A" "" "VUS" "" "0000574402" "0" "50" "X" "153132876" "153132876" "subst" "0" "02327" "L1CAM_000054" "g.153132876G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153867421G>A" "" "VUS" "" "0000574403" "0" "30" "X" "153133495" "153133495" "subst" "0.0000112007" "01943" "L1CAM_000055" "g.153133495C>T" "" "" "" "L1CAM(NM_001278116.1):c.1786G>A (p.E596K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153868040C>T" "" "likely benign" "" "0000574404" "0" "30" "X" "153133500" "153133500" "subst" "0.0000279977" "01804" "L1CAM_000056" "g.153133500C>T" "" "" "" "L1CAM(NM_000425.3):c.1781G>A (p.(Ser594Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153868045C>T" "" "likely benign" "" "0000574405" "0" "30" "X" "153133886" "153133886" "subst" "0.0000167789" "01943" "L1CAM_000057" "g.153133886C>T" "" "" "" "L1CAM(NM_001278116.1):c.1574G>A (p.R525H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153868431C>T" "" "likely benign" "" "0000574406" "0" "50" "X" "153135121" "153135121" "subst" "0.0000183241" "01943" "L1CAM_000058" "g.153135121G>A" "" "" "" "L1CAM(NM_001278116.1):c.1124-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153869666G>A" "" "VUS" "" "0000574407" "0" "50" "X" "153135330" "153135330" "subst" "0" "02325" "L1CAM_000059" "g.153135330G>A" "" "" "" "L1CAM(NM_001278116.2):c.1051C>T (p.R351C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153869875G>A" "" "VUS" "" "0000574408" "0" "50" "X" "153135508" "153135508" "dup" "0" "01804" "L1CAM_000060" "g.153135508dup" "" "" "" "L1CAM(NM_000425.3):c.991+3dupA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153870053dup" "" "VUS" "" "0000574409" "0" "30" "X" "153136348" "153136348" "subst" "0.0000167827" "01943" "L1CAM_000061" "g.153136348A>G" "" "" "" "L1CAM(NM_001278116.1):c.591T>C (p.N197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153870893A>G" "" "likely benign" "" "0000574411" "0" "10" "X" "153138030" "153138030" "subst" "0.00733035" "01943" "L1CAM_000063" "g.153138030C>T" "" "" "" "L1CAM(NM_000425.4):c.197+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153872575C>T" "" "benign" "" "0000574412" "0" "30" "X" "153138131" "153138131" "subst" "0.000246245" "01943" "L1CAM_000064" "g.153138131G>A" "" "" "" "L1CAM(NM_001278116.1):c.113C>T (p.T38M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153872676G>A" "" "likely benign" "" "0000574413" "0" "30" "X" "153141256" "153141256" "subst" "0.00195968" "02326" "L1CAM_000065" "g.153141256G>T" "" "" "" "L1CAM(NM_001278116.2):c.36C>A (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153875801G>T" "" "likely benign" "" "0000619187" "0" "30" "X" "153129871" "153129871" "subst" "0.0000111934" "01943" "L1CAM_000066" "g.153129871C>T" "" "" "" "L1CAM(NM_001278116.1):c.3228G>A (p.T1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153864416C>T" "" "likely benign" "" "0000619188" "0" "30" "X" "153130652" "153130652" "subst" "0.000119834" "01943" "L1CAM_000067" "g.153130652G>A" "" "" "" "L1CAM(NM_001278116.1):c.2763C>T (p.P921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153865197G>A" "" "likely benign" "" "0000619189" "0" "90" "X" "153136272" "153136272" "subst" "0" "02325" "L1CAM_000068" "g.153136272C>A" "" "" "" "L1CAM(NM_001278116.2):c.667G>T (p.E223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153870817C>A" "" "pathogenic" "" "0000652820" "1" "10" "X" "153129038" "153129038" "subst" "0.0446745" "03575" "L1CAM_000069" "g.153129038G>A" "85/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "85 heterozygous; {DB:CLININrs7052999}" "Germline" "" "rs7052999" "0" "" "" "g.153863583G>A" "" "benign" "" "0000652821" "1" "50" "X" "153132233" "153132233" "subst" "0.00217316" "03575" "L1CAM_000016" "g.153132233C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous; {DB:CLININrs36021462}" "Germline" "" "rs36021462" "0" "" "" "g.153866778C>T" "" "VUS" "" "0000659159" "0" "30" "X" "153129907" "153129907" "subst" "0.000129127" "01943" "L1CAM_000070" "g.153129907C>A" "" "" "" "L1CAM(NM_001278116.1):c.3192G>T (p.S1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153864452C>A" "" "likely benign" "" "0000659160" "0" "90" "X" "153133890" "153133890" "subst" "0" "02325" "L1CAM_000071" "g.153133890G>A" "" "" "" "L1CAM(NM_001278116.2):c.1570C>T (p.P524S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153868435G>A" "" "pathogenic" "" "0000659161" "0" "50" "X" "153137598" "153137598" "subst" "0.0000450648" "01943" "L1CAM_000072" "g.153137598G>A" "" "" "" "L1CAM(NM_001278116.1):c.400+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153872143G>A" "" "VUS" "" "0000670087" "0" "10" "X" "153129038" "153129038" "subst" "0.0446745" "03575" "L1CAM_000069" "g.153129038G>A" "70/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "70 homozygous; {DB:CLININrs7052999}" "Germline" "" "rs7052999" "0" "" "" "g.153863583G>A" "" "benign" "" "0000670088" "0" "50" "X" "153132233" "153132233" "subst" "0.00217316" "03575" "L1CAM_000016" "g.153132233C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 homozygous; {DB:CLININrs36021462}" "Germline" "" "rs36021462" "0" "" "" "g.153866778C>T" "" "VUS" "" "0000682221" "0" "50" "X" "153128340" "153128342" "del" "0" "02327" "L1CAM_000073" "g.153128340_153128342del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682222" "0" "30" "X" "153130402" "153130402" "subst" "0.00000559337" "01943" "L1CAM_000074" "g.153130402C>T" "" "" "" "L1CAM(NM_001278116.1):c.2920G>A (p.E974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682223" "0" "90" "X" "153133914" "153133914" "subst" "0" "02325" "L1CAM_000075" "g.153133914C>G" "" "" "" "L1CAM(NM_001278116.2):c.1547-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682224" "0" "30" "X" "153135274" "153135274" "subst" "0.000253351" "01943" "L1CAM_000076" "g.153135274G>A" "" "" "" "L1CAM(NM_001278116.1):c.1107C>T (p.N369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682225" "0" "50" "X" "153135538" "153135538" "subst" "0.000117782" "01943" "L1CAM_000077" "g.153135538G>A" "" "" "" "L1CAM(NM_001278116.1):c.964C>T (p.R322W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693434" "0" "30" "X" "153130056" "153130056" "subst" "0" "01943" "L1CAM_000078" "g.153130056C>A" "" "" "" "L1CAM(NM_001278116.1):c.3150G>T (p.L1050F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693435" "0" "30" "X" "153131169" "153131169" "subst" "0.0000279667" "01943" "L1CAM_000079" "g.153131169C>T" "" "" "" "L1CAM(NM_001278116.1):c.2537G>A (p.R846H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693436" "0" "30" "X" "153132303" "153132303" "subst" "0.000107571" "01943" "L1CAM_000080" "g.153132303G>A" "" "" "" "L1CAM(NM_001278116.1):c.2232C>T (p.N744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693437" "0" "30" "X" "153133331" "153133331" "subst" "0.0000284051" "01943" "L1CAM_000081" "g.153133331G>A" "" "" "" "L1CAM(NM_001278116.1):c.1863C>T (p.S621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693438" "0" "30" "X" "153135913" "153135913" "subst" "0.0000112164" "01943" "L1CAM_000082" "g.153135913T>C" "" "" "" "L1CAM(NM_001278116.1):c.736A>G (p.T246A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728577" "0" "30" "X" "153130846" "153130846" "subst" "0.000146001" "01943" "L1CAM_000083" "g.153130846C>T" "" "" "" "L1CAM(NM_001278116.1):c.2657G>A (p.R886Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728578" "0" "30" "X" "153132164" "153132164" "subst" "0.0000167976" "01943" "L1CAM_000084" "g.153132164C>T" "" "" "" "L1CAM(NM_001278116.1):c.2371G>A (p.V791I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728579" "0" "30" "X" "153133931" "153133931" "subst" "0.000117481" "02326" "L1CAM_000085" "g.153133931G>A" "" "" "" "L1CAM(NM_001278116.2):c.1547-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728580" "0" "30" "X" "153135686" "153135686" "subst" "0" "01943" "L1CAM_000086" "g.153135686G>A" "" "" "" "L1CAM(NM_001278116.1):c.816C>T (p.P272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728581" "0" "50" "X" "153137707" "153137707" "subst" "0" "01943" "L1CAM_000087" "g.153137707G>C" "" "" "" "L1CAM(NM_001278116.1):c.300C>G (p.N100K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728582" "0" "30" "X" "153137713" "153137713" "subst" "0.000553986" "01943" "L1CAM_000088" "g.153137713C>T" "" "" "" "L1CAM(NM_001278116.1):c.294G>A (p.T98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763087" "1" "90" "X" "153135121" "153135124" "dup" "0" "00006" "L1CAM_000089" "g.153135121_153135124dup" "" "{PMID:Anazi 2017:27431290}" "" "NM_001143963.2:c.1109-2dupGCAC" "ACMG PVS1, PM2, PM6" "Germline" "" "" "0" "" "" "g.153869666_153869669dup" "" "pathogenic" "ACMG" "0000763594" "0" "70" "X" "153136244" "153136244" "subst" "0" "01164" "L1CAM_000090" "g.153136244C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000786905" "0" "90" "X" "153136335" "153136335" "subst" "0" "00006" "L1CAM_000092" "g.153136335C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.153870880C>A" "" "pathogenic" "" "0000786906" "0" "90" "X" "153132257" "153132257" "subst" "0" "00006" "L1CAM_000091" "g.153132257G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.153866802G>A" "" "pathogenic" "" "0000796593" "0" "90" "X" "153134975" "153134975" "subst" "0" "04157" "L1CAM_000093" "g.153134975G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000810071" "0" "30" "X" "153128943" "153128943" "subst" "0.00112018" "01943" "L1CAM_000094" "g.153128943G>A" "" "" "" "L1CAM(NM_001278116.1):c.3519C>T (p.F1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810072" "0" "30" "X" "153133467" "153133467" "subst" "0" "01943" "L1CAM_000095" "g.153133467T>C" "" "" "" "L1CAM(NM_001278116.1):c.1814A>G (p.Q605R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810073" "0" "30" "X" "153137611" "153137611" "subst" "0.000465954" "01943" "L1CAM_000096" "g.153137611G>A" "" "" "" "L1CAM(NM_001278116.1):c.396C>T (p.A132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810074" "0" "30" "X" "153141253" "153141253" "subst" "0" "01943" "L1CAM_000097" "g.153141253G>A" "" "" "" "L1CAM(NM_001278116.1):c.39C>T (p.L13=)" "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 L1CAM ## Count = 104 "{{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}}" "0000008042" "00025606" "50" "3323" "-84" "3323" "-84" "c.3323-84C>T" "r.(=)" "p.(=)" "" "0000008043" "00025606" "50" "1268" "-114" "1268" "-114" "c.1268-114C>G" "r.(=)" "p.(=)" "" "0000010211" "00025606" "50" "3323" "-84" "3323" "-84" "c.3323-84C>T" "r.(=)" "p.(=)" "" "0000010212" "00025606" "50" "1268" "-114" "1268" "-114" "c.1268-114C>G" "r.(=)" "p.(=)" "" "0000234489" "00025606" "70" "2205" "0" "2205" "0" "c.2205G>A" "r.(?)" "p.(Trp735*)" "17" "0000254969" "00025606" "30" "3690" "0" "3690" "0" "c.3690T>C" "r.(?)" "p.(Ser1230=)" "" "0000281952" "00025606" "30" "2211" "0" "2211" "0" "c.2211G>A" "r.(?)" "p.(Pro737=)" "" "0000281953" "00025606" "30" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Val768Ile)" "" "0000290587" "00025606" "10" "1268" "-10" "1268" "-10" "c.1268-10C>T" "r.(=)" "p.(=)" "" "0000290588" "00025606" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000290589" "00025606" "50" "1993" "0" "1993" "0" "c.1993C>G" "r.(?)" "p.(Leu665Val)" "" "0000290590" "00025606" "10" "2209" "-6" "2209" "-6" "c.2209-6C>T" "r.(=)" "p.(=)" "" "0000290591" "00025606" "10" "2211" "0" "2211" "0" "c.2211G>A" "r.(?)" "p.(Pro737=)" "" "0000290592" "00025606" "30" "2295" "0" "2295" "0" "c.2295G>A" "r.(?)" "p.(Glu765=)" "" "0000290593" "00025606" "30" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Val768Ile)" "" "0000290594" "00025606" "10" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(Ser769=)" "" "0000290595" "00025606" "50" "2402" "0" "2402" "0" "c.2402A>G" "r.(?)" "p.(Gln801Arg)" "" "0000290596" "00025606" "30" "2553" "0" "2553" "0" "c.2553G>A" "r.(?)" "p.(Thr851=)" "" "0000290597" "00025606" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Thr98Met)" "" "0000290598" "00025606" "30" "3081" "0" "3081" "0" "c.3081G>T" "r.(?)" "p.(Ala1027=)" "" "0000290599" "00025606" "30" "3444" "0" "3444" "0" "c.3444C>T" "r.(?)" "p.(Gly1148=)" "" "0000290600" "00025606" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Ser117=)" "" "0000290601" "00025606" "30" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Asn1183=)" "" "0000290602" "00025606" "30" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Thr122=)" "" "0000290603" "00025606" "30" "3705" "0" "3705" "0" "c.3705G>A" "r.(?)" "p.(Lys1235=)" "" "0000290604" "00025606" "30" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Met131Val)" "" "0000290605" "00025606" "30" "523" "0" "523" "0" "c.523A>C" "r.(?)" "p.(Lys175Gln)" "" "0000290606" "00025606" "30" "649" "0" "649" "0" "c.649A>C" "r.(?)" "p.(Arg217=)" "" "0000290607" "00025606" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "" "0000290608" "00025606" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Ala285=)" "" "0000290609" "00025606" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Thr328=)" "" "0000290610" "00025606" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Val329Met)" "" "0000336091" "00025606" "30" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Pro1201Ser)" "" "0000336092" "00025606" "50" "3314" "0" "3314" "0" "c.3314A>G" "r.(?)" "p.(Asn1105Ser)" "" "0000336093" "00025606" "30" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Val768Ile)" "" "0000336096" "00025606" "50" "1853" "0" "1853" "0" "c.1853T>A" "r.(?)" "p.(Leu618Gln)" "" "0000336097" "00025606" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Ser341Gly)" "" "0000342983" "00025606" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485Ter)" "" "0000344201" "00025606" "50" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Asp869Asn)" "" "0000348387" "00025606" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Pro333Leu)" "" "0000348532" "00025606" "50" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Pro637Ser)" "" "0000350484" "00025606" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Val329Met)" "" "0000408035" "00025606" "90" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Asp202Asn)" "" "0000408064" "00025606" "90" "-209" "-468406" "4923" "416163" "c.-468615_*417312dup" "r.0?" "p.0?" "" "0000574387" "00025606" "30" "3735" "0" "3735" "0" "c.3735G>A" "r.(?)" "p.(Gly1245=)" "" "0000574388" "00025606" "30" "3615" "0" "3615" "0" "c.3615C>T" "r.(?)" "p.(Asp1205=)" "" "0000574389" "00025606" "50" "3589" "0" "3589" "0" "c.3589G>C" "r.(?)" "p.(Gly1197Arg)" "" "0000574390" "00025606" "30" "3589" "0" "3589" "0" "c.3589G>C" "r.(?)" "p.(Gly1197Arg)" "" "0000574391" "00025606" "30" "3351" "0" "3351" "0" "c.3351C>T" "r.(?)" "p.(Phe1117=)" "" "0000574392" "00025606" "30" "3327" "0" "3327" "0" "c.3327C>T" "r.(?)" "p.(Arg1109=)" "" "0000574393" "00025606" "50" "3323" "-19" "3323" "-19" "c.3323-19dup" "r.(=)" "p.(=)" "" "0000574394" "00025606" "30" "3323" "-19" "3323" "-19" "c.3323-19dup" "r.(=)" "p.(=)" "" "0000574395" "00025606" "50" "2966" "0" "2966" "0" "c.2966A>G" "r.(?)" "p.(Tyr989Cys)" "" "0000574396" "00025606" "30" "2872" "4" "2872" "4" "c.2872+4C>A" "r.spl?" "p.?" "" "0000574397" "00025606" "30" "2722" "0" "2722" "0" "c.2722G>A" "r.(?)" "p.(Glu908Lys)" "" "0000574398" "00025606" "30" "2643" "0" "2643" "0" "c.2643C>A" "r.(?)" "p.(Ile881=)" "" "0000574399" "00025606" "30" "2565" "0" "2565" "0" "c.2565G>T" "r.(?)" "p.(Glu855Asp)" "" "0000574400" "00025606" "50" "2526" "0" "2526" "0" "c.2526G>T" "r.(?)" "p.(Lys842Asn)" "" "0000574402" "00025606" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Ala691Val)" "" "0000574403" "00025606" "30" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Glu596Lys)" "" "0000574404" "00025606" "30" "1781" "0" "1781" "0" "c.1781G>A" "r.(?)" "p.(Ser594Asn)" "" "0000574405" "00025606" "30" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Arg525His)" "" "0000574406" "00025606" "50" "1124" "-3" "1124" "-3" "c.1124-3C>T" "r.spl?" "p.?" "" "0000574407" "00025606" "50" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Cys)" "" "0000574408" "00025606" "50" "991" "3" "991" "3" "c.991+3dup" "r.spl?" "p.?" "" "0000574409" "00025606" "30" "591" "0" "591" "0" "c.591T>C" "r.(?)" "p.(Asn197=)" "" "0000574411" "00025606" "10" "197" "17" "197" "17" "c.197+17G>A" "r.(=)" "p.(=)" "" "0000574412" "00025606" "30" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Thr38Met)" "" "0000574413" "00025606" "30" "36" "0" "36" "0" "c.36C>A" "r.(?)" "p.(Leu12=)" "" "0000619187" "00025606" "30" "3228" "0" "3228" "0" "c.3228G>A" "r.(?)" "p.(Thr1076=)" "" "0000619188" "00025606" "30" "2763" "0" "2763" "0" "c.2763C>T" "r.(?)" "p.(Pro921=)" "" "0000619189" "00025606" "90" "667" "0" "667" "0" "c.667G>T" "r.(?)" "p.(Glu223Ter)" "" "0000652820" "00025606" "10" "3458" "-34" "3458" "-34" "c.3458-34C>T" "r.(=)" "p.(=)" "" "0000652821" "00025606" "50" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Val768Ile)" "" "0000659159" "00025606" "30" "3192" "0" "3192" "0" "c.3192G>T" "r.(?)" "p.(Ser1064=)" "" "0000659160" "00025606" "90" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Pro524Ser)" "" "0000659161" "00025606" "50" "400" "9" "400" "9" "c.400+9C>T" "r.(=)" "p.(=)" "" "0000670087" "00025606" "10" "3458" "-34" "3458" "-34" "c.3458-34C>T" "r.(=)" "p.(=)" "" "0000670088" "00025606" "50" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Val768Ile)" "" "0000682221" "00025606" "50" "3541" "0" "3543" "0" "c.3541_3543del" "r.(?)" "p.(Glu1181del)" "" "0000682222" "00025606" "30" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Glu974Lys)" "" "0000682223" "00025606" "90" "1547" "-1" "1547" "-1" "c.1547-1G>C" "r.spl?" "p.?" "" "0000682224" "00025606" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Asn369=)" "" "0000682225" "00025606" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Trp)" "" "0000693434" "00025606" "30" "3150" "0" "3150" "0" "c.3150G>T" "r.(?)" "p.(Leu1050Phe)" "" "0000693435" "00025606" "30" "2537" "0" "2537" "0" "c.2537G>A" "r.(?)" "p.(Arg846His)" "" "0000693436" "00025606" "30" "2232" "0" "2232" "0" "c.2232C>T" "r.(?)" "p.(Asn744=)" "" "0000693437" "00025606" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Ser621=)" "" "0000693438" "00025606" "30" "736" "0" "736" "0" "c.736A>G" "r.(?)" "p.(Thr246Ala)" "" "0000728577" "00025606" "30" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886Gln)" "" "0000728578" "00025606" "30" "2371" "0" "2371" "0" "c.2371G>A" "r.(?)" "p.(Val791Ile)" "" "0000728579" "00025606" "30" "1547" "-18" "1547" "-18" "c.1547-18C>T" "r.(=)" "p.(=)" "" "0000728580" "00025606" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Pro272=)" "" "0000728581" "00025606" "50" "300" "0" "300" "0" "c.300C>G" "r.(?)" "p.(Asn100Lys)" "" "0000728582" "00025606" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Thr98=)" "" "0000763087" "00025606" "90" "1124" "-6" "1124" "-3" "c.1124-6_1124-3dup" "r.spl?" "p.?" "" "0000763594" "00025606" "70" "694" "1" "694" "1" "c.694+1G>A" "r.spl?" "p.?" "" "0000786905" "00025606" "90" "604" "0" "604" "0" "c.604G>T" "r.(?)" "p.(Asp202Tyr)" "6" "0000786906" "00025606" "90" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Ter)" "18" "0000796593" "00025606" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000810071" "00025606" "30" "3519" "0" "3519" "0" "c.3519C>T" "r.(?)" "p.(Phe1173=)" "" "0000810072" "00025606" "30" "1814" "0" "1814" "0" "c.1814A>G" "r.(?)" "p.(Gln605Arg)" "" "0000810073" "00025606" "30" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Ala132=)" "" "0000810074" "00025606" "30" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Leu13=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000000209" "0000008042" "0000000209" "0000008043" "0000000210" "0000010211" "0000000210" "0000010212" "0000144052" "0000234489" "0000184066" "0000408035" "0000184095" "0000408064" "0000296131" "0000652820" "0000296132" "0000652821" "0000306399" "0000670087" "0000306400" "0000670088" "0000362713" "0000763087" "0000363150" "0000763594" "0000375554" "0000786905" "0000375555" "0000786906" "0000382749" "0000796593"