### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NLGN4X) # 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}}" "NLGN4X" "neuroligin 4, X-linked" "X" "p22.33" "unknown" "NC_000023.10" "UD_132118487497" "" "https://www.LOVD.nl/NLGN4X" "" "1" "14287" "57502" "300427" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00002" "2009-03-06 00:00:00" "00006" "2026-09-09 15:03:25" "00006" "2026-09-09 14:39:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000134" "NLGN4X" "neuroligin 4, X-linked, transcript variant 2" "002" "NM_020742.2" "" "NP_851849.1" "" "" "" "-464" "5226" "2451" "6145888" "5808083" "00002" "2012-05-11 13:12:12" "" "" "00026110" "NLGN4X" "transcript variant 2 (expired, new version available)" "002" "NM_181332.3" "" "NP_851849.1" "" "" "MANE select" "-430" "5226" "2451" "6146706" "5808083" "00006" "2026-09-09 14:39:20" "" "" ## 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" "00819" "AUTSX2" "mental retardation, X-linked (MRXS)" "XL;Mu;IC" "300495" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02162" "ASPGX2" "Asperger syndrome X-linked 2" "XL" "300497" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NLGN4X" "00139" "NLGN4X" "00819" "NLGN4X" "02162" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "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" "" "" "" "" "00173319" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173320" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173321" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173322" "" "" "" "41" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173455" "" "" "" "22" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173565" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173566" "" "" "" "22" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173586" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173684" "" "" "" "26" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00307754" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411278" "00395575" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1018" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173319" "00187" "00173320" "00187" "00173321" "00187" "00173322" "00187" "00173455" "00187" "00173565" "00187" "00173566" "00187" "00173586" "00187" "00173684" "00187" "00307754" "00139" "00395575" "04214" "00443879" "06906" "00443880" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00819, 01157, 02162, 04214, 06906 ## Count = 14 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "0000138183" "00187" "00173319" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138184" "00187" "00173320" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138185" "00187" "00173321" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138186" "00187" "00173322" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138319" "00187" "00173455" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138429" "00187" "00173565" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138430" "00187" "00173566" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138450" "00187" "00173586" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138548" "00187" "00173684" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000288773" "04214" "00395575" "00000" "Unknown" "" "astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border" "" "" "" "" "" "" "" "Early-onset retinitis pigmentosa, deletion syndrome" "" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "DEE89" "West syndrome" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "DEE89" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "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" "" "" "0000174202" "00173319" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174203" "00173320" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174204" "00173321" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174205" "00173322" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174338" "00173455" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174448" "00173565" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174449" "00173566" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174469" "00173586" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174567" "00173684" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000308894" "00307754" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000396813" "00395575" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing | aCGH" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000174202" "P2RY8" "0000174203" "PCYT1B" "0000174204" "PCYT1B" "0000174205" "PDHA1" "0000174338" "GPKOW" "0000174448" "RGAG1" "0000174449" "PDHA1" "0000174469" "FAM47C" "0000174567" "DNASE1L1" "0000308894" "NLGN4X" "0000396813" "NLGN4X" ## 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 = 89 "{{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}}" "0000001317" "3" "50" "X" "5810574" "5810574" "subst" "0" "00002" "NLGN4X_000001" "g.5810574C>T" "" "{PMID:Almomani 2011:21102627} {dbSNP:3810686}" "" "" "" "Germline" "" "" "" "" "" "g.5892533C>T" "" "VUS" "" "0000001775" "20" "50" "X" "6146008" "6146009" "del" "0" "00037" "NLGN4X_000003" "g.6146008_6146009del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6227967_6227968del" "" "VUS" "" "0000002761" "0" "50" "X" "6145999" "6146000" "del" "0" "00037" "NLGN4X_000026" "g.6145999_6146000del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6227958_6227959del" "" "VUS" "" "0000006241" "20" "50" "X" "5808861" "5808861" "subst" "0" "00037" "NLGN4X_000023" "g.5808861G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5890820G>A" "" "VUS" "" "0000006242" "20" "50" "X" "5810090" "5810090" "subst" "0" "00037" "NLGN4X_000005" "g.5810090A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5892049A>G" "" "VUS" "" "0000006243" "20" "50" "X" "5810574" "5810574" "subst" "0" "00037" "NLGN4X_000001" "g.5810574C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5892533C>T" "" "VUS" "" "0000006244" "20" "50" "X" "5820961" "5820961" "subst" "0" "00037" "NLGN4X_000011" "g.5820961G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5902920G>T" "" "VUS" "" "0000006245" "20" "50" "X" "5920150" "5920150" "subst" "0" "00037" "NLGN4X_000017" "g.5920150C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6002109C>T" "" "VUS" "" "0000006246" "20" "50" "X" "5920261" "5920261" "subst" "0" "00037" "NLGN4X_000014" "g.5920261G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6002220G>A" "" "VUS" "" "0000006247" "20" "50" "X" "6146223" "6146223" "subst" "0" "00037" "NLGN4X_000004" "g.6146223C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6228182C>T" "" "VUS" "" "0000008238" "20" "50" "X" "5808861" "5808861" "subst" "0" "00037" "NLGN4X_000023" "g.5808861G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5890820G>A" "" "VUS" "" "0000008239" "20" "50" "X" "5810090" "5810090" "subst" "0" "00037" "NLGN4X_000005" "g.5810090A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5892049A>G" "" "VUS" "" "0000008240" "20" "50" "X" "5810574" "5810574" "subst" "0" "00037" "NLGN4X_000001" "g.5810574C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5892533C>T" "" "VUS" "" "0000008241" "20" "50" "X" "5820961" "5820961" "subst" "0" "00037" "NLGN4X_000011" "g.5820961G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5902920G>T" "" "VUS" "" "0000008242" "20" "50" "X" "5920150" "5920150" "subst" "0" "00037" "NLGN4X_000017" "g.5920150C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6002109C>T" "" "VUS" "" "0000008243" "20" "50" "X" "5920261" "5920261" "subst" "0" "00037" "NLGN4X_000014" "g.5920261G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6002220G>A" "" "VUS" "" "0000008244" "0" "50" "X" "6146008" "6146009" "del" "0" "00037" "NLGN4X_000003" "g.6146008_6146009del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6227967_6227968del" "" "VUS" "" "0000010758" "20" "50" "X" "5947731" "5947732" "dup" "0" "00037" "NLGN4X_000028" "g.5947731_5947732dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6029690_6029691dup" "" "VUS" "" "0000010759" "0" "50" "X" "6145999" "6146000" "del" "0" "00037" "NLGN4X_000026" "g.6145999_6146000del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6227958_6227959del" "" "VUS" "" "0000014204" "20" "50" "X" "6146223" "6146223" "subst" "0" "00037" "NLGN4X_000004" "g.6146223C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6228182C>T" "" "VUS" "" "0000296495" "0" "10" "X" "5811532" "5811532" "subst" "0.00718535" "02325" "NLGN4X_000035" "g.5811532G>A" "" "" "" "NLGN4X(NM_001282145.1):c.1777C>T (p.L593F), NLGN4X(NM_020742.4):c.1777C>T (p.L593F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5893491G>A" "" "benign" "" "0000296496" "0" "50" "X" "5811294" "5811294" "subst" "0" "02325" "NLGN4X_000034" "g.5811294G>T" "" "" "" "NLGN4X(NM_001282145.2):c.2015C>A (p.S672Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5893253G>T" "" "VUS" "" "0000296497" "0" "30" "X" "6069116" "6069116" "subst" "0.000458713" "02325" "NLGN4X_000042" "g.6069116T>C" "" "" "" "NLGN4X(NM_001282145.1):c.392A>G (p.N131S), NLGN4X(NM_020742.2):c.392A>G (p.(Asn131Ser)), NLGN4X(NM_020742.4):c.392A>G (p.N131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6151075T>C" "" "likely benign" "" "0000298578" "0" "50" "X" "5811274" "5811274" "subst" "0" "02329" "NLGN4X_000032" "g.5811274T>C" "" "" "" "NLGN4X(NM_001282145.2):c.2035A>G (p.I679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5893233T>C" "" "VUS" "" "0000304192" "0" "30" "X" "5821677" "5821677" "subst" "6.71126E-5" "01943" "NLGN4X_000038" "g.5821677C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1042G>A (p.V348I), NLGN4X(NM_001282145.2):c.1042G>A (p.V348I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5903636C>T" "" "likely benign" "" "0000304193" "0" "30" "X" "5821351" "5821351" "subst" "3.37435E-5" "01943" "NLGN4X_000036" "g.5821351G>A" "" "" "" "NLGN4X(NM_001282145.1):c.1368C>T (p.T456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5903310G>A" "" "likely benign" "" "0000304194" "0" "10" "X" "5811532" "5811532" "subst" "0.00718535" "01943" "NLGN4X_000035" "g.5811532G>A" "" "" "" "NLGN4X(NM_001282145.1):c.1777C>T (p.L593F), NLGN4X(NM_020742.4):c.1777C>T (p.L593F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5893491G>A" "" "benign" "" "0000304195" "0" "30" "X" "5811029" "5811029" "subst" "0.00115205" "01943" "NLGN4X_000029" "g.5811029G>A" "" "" "" "NLGN4X(NM_001282145.1):c.2280C>T (p.Y760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5892988G>A" "" "likely benign" "" "0000333036" "0" "50" "X" "5811063" "5811063" "subst" "0" "01804" "NLGN4X_000030" "g.5811063T>A" "" "" "" "NLGN4X(NM_020742.2):c.2246A>T (p.(His749Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5893022T>A" "" "VUS" "" "0000333041" "0" "50" "X" "5947485" "5947485" "dup" "0" "01804" "NLGN4X_000041" "g.5947485dup" "" "" "" "NLGN4X(NM_001282145.1):c.473-5dupT, NLGN4X(NM_020742.2):c.473-5_473-4insT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6029444dup" "" "VUS" "" "0000333042" "0" "30" "X" "6069116" "6069116" "subst" "0.000458713" "01804" "NLGN4X_000042" "g.6069116T>C" "" "" "" "NLGN4X(NM_001282145.1):c.392A>G (p.N131S), NLGN4X(NM_020742.2):c.392A>G (p.(Asn131Ser)), NLGN4X(NM_020742.4):c.392A>G (p.N131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6151075T>C" "" "likely benign" "" "0000333043" "0" "50" "X" "6069393" "6069393" "subst" "0.0012978" "01804" "NLGN4X_000043" "g.6069393T>C" "" "" "" "NLGN4X(NM_020742.2):c.115A>G (p.(Ile39Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6151352T>C" "" "VUS" "" "0000343450" "0" "50" "X" "6069248" "6069248" "subst" "0" "02327" "NLGN4X_000046" "g.6069248C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6151207C>T" "" "VUS" "" "0000343591" "0" "30" "X" "6069116" "6069116" "subst" "0.000458713" "02327" "NLGN4X_000042" "g.6069116T>C" "" "" "" "NLGN4X(NM_001282145.1):c.392A>G (p.N131S), NLGN4X(NM_020742.2):c.392A>G (p.(Asn131Ser)), NLGN4X(NM_020742.4):c.392A>G (p.N131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6151075T>C" "" "likely benign" "" "0000346694" "0" "50" "X" "5821707" "5821707" "subst" "0" "02327" "NLGN4X_000045" "g.5821707T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5903666T>C" "" "VUS" "" "0000347244" "0" "30" "X" "5811532" "5811532" "subst" "0.00718535" "02327" "NLGN4X_000035" "g.5811532G>A" "" "" "" "NLGN4X(NM_001282145.1):c.1777C>T (p.L593F), NLGN4X(NM_020742.4):c.1777C>T (p.L593F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5893491G>A" "" "likely benign" "" "0000401208" "1" "30" "X" "5811530" "5811530" "subst" "0.00633585" "00124" "NLGN4X_000053" "g.5811530G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L593L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.5893489G>C" "" "likely benign" "" "0000401209" "1" "30" "X" "5811056" "5811056" "subst" "5.59247E-6" "00124" "NLGN4X_000051" "g.5811056T>C" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T751T" "recurrent, found 17 times" "Germline" "" "" "0" "" "" "g.5893015T>C" "" "likely benign" "" "0000401210" "1" "30" "X" "5810953" "5810953" "subst" "0" "00124" "NLGN4X_000049" "g.5810953G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L786L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.5892912G>A" "" "likely benign" "" "0000401211" "1" "30" "X" "5821786" "5821786" "subst" "0.107675" "00124" "NLGN4X_000054" "g.5821786G>A" "41/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T311T" "recurrent, found 41 times" "Germline" "" "" "0" "" "" "g.5903745G>A" "" "likely benign" "" "0000401212" "1" "50" "X" "5811145" "5811145" "subst" "1.11964E-5" "00124" "NLGN4X_000052" "g.5811145C>T" "22/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A722T" "recurrent, found 22 times" "Germline" "" "" "0" "" "" "g.5893104C>T" "" "VUS" "" "0000401213" "1" "50" "X" "5811532" "5811532" "subst" "0.00718535" "00124" "NLGN4X_000035" "g.5811532G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L593F" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.5893491G>A" "" "VUS" "" "0000401214" "1" "50" "X" "5810992" "5810992" "subst" "0" "00124" "NLGN4X_000050" "g.5810992G>A" "22/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L773F" "recurrent, found 22 times" "Germline" "" "" "0" "" "" "g.5892951G>A" "" "VUS" "" "0000401215" "1" "50" "X" "5810921" "5810921" "subst" "0" "00124" "NLGN4X_000047" "g.5810921G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N796K" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.5892880G>T" "" "VUS" "" "0000401216" "1" "50" "X" "5810949" "5810949" "subst" "0.000218109" "00124" "NLGN4X_000048" "g.5810949G>A" "26/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T787M" "recurrent, found 26 times" "Germline" "" "" "0" "" "" "g.5892908G>A" "" "VUS" "" "0000576847" "0" "30" "X" "5811063" "5811063" "subst" "0" "01804" "NLGN4X_000056" "g.5811063T>C" "" "" "" "NLGN4X(NM_020742.2):c.2246A>G (p.(His749Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5893022T>C" "" "likely benign" "" "0000576848" "0" "50" "X" "5811268" "5811268" "subst" "5.59964E-6" "01943" "NLGN4X_000057" "g.5811268C>T" "" "" "" "NLGN4X(NM_001282145.1):c.2041G>A (p.V681I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5893227C>T" "" "VUS" "" "0000576849" "0" "50" "X" "5821524" "5821524" "subst" "1.32069E-5" "01943" "NLGN4X_000058" "g.5821524C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1195G>A (p.V399M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903483C>T" "" "VUS" "" "0000576850" "0" "50" "X" "5821551" "5821551" "subst" "0" "01943" "NLGN4X_000059" "g.5821551C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1168G>A (p.V390M), NLGN4X(NM_020742.4):c.1168G>A (p.V390M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903510C>T" "" "VUS" "" "0000576851" "0" "50" "X" "5821575" "5821575" "subst" "1.17497E-5" "01943" "NLGN4X_000060" "g.5821575C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1144G>A (p.G382S), NLGN4X(NM_020742.2):c.1144G>A (p.(Gly382Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903534C>T" "" "VUS" "" "0000576852" "0" "10" "X" "5821786" "5821786" "subst" "0.107675" "02325" "NLGN4X_000054" "g.5821786G>A" "" "" "" "NLGN4X(NM_020742.4):c.933C>T (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903745G>A" "" "benign" "" "0000576853" "0" "10" "X" "5821822" "5821822" "subst" "0.00168365" "01943" "NLGN4X_000039" "g.5821822T>C" "" "" "" "NLGN4X(NM_001282145.1):c.897A>G (p.I299M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903781T>C" "" "benign" "" "0000576854" "0" "50" "X" "5821872" "5821872" "subst" "0" "02327" "NLGN4X_000040" "g.5821872C>T" "" "" "" "NLGN4X(NM_001282145.1):c.847G>A (p.A283T), NLGN4X(NM_001282145.2):c.847G>A (p.A283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903831C>T" "" "VUS" "" "0000576870" "0" "30" "X" "6069116" "6069116" "subst" "0.000458713" "01943" "NLGN4X_000042" "g.6069116T>C" "" "" "" "NLGN4X(NM_001282145.1):c.392A>G (p.N131S), NLGN4X(NM_020742.2):c.392A>G (p.(Asn131Ser)), NLGN4X(NM_020742.4):c.392A>G (p.N131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6151075T>C" "" "likely benign" "" "0000619747" "0" "50" "X" "5810955" "5810955" "subst" "0" "01943" "NLGN4X_000061" "g.5810955G>T" "" "" "" "NLGN4X(NM_001282145.1):c.2354C>A (p.T785K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5892914G>T" "" "VUS" "" "0000619748" "0" "30" "X" "5827086" "5827086" "subst" "0" "01943" "NLGN4X_000062" "g.5827086C>A" "" "" "" "NLGN4X(NM_001282145.1):c.811+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5909045C>A" "" "likely benign" "" "0000659400" "0" "30" "X" "5821420" "5821420" "subst" "1.70475E-5" "01943" "NLGN4X_000063" "g.5821420C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1299G>A (p.P433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5903379C>T" "" "likely benign" "" "0000659404" "0" "90" "X" "6069207" "6069207" "subst" "0" "02325" "NLGN4X_000064" "g.6069207G>A" "" "" "" "NLGN4X(NM_001282145.2):c.301C>T (p.R101*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6151166G>A" "" "pathogenic" "" "0000682556" "0" "50" "X" "5810899" "5810899" "subst" "0" "01943" "NLGN4X_000065" "g.5810899T>A" "" "" "" "NLGN4X(NM_001282145.1):c.2410A>T (p.S804C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682557" "0" "50" "X" "5821575" "5821575" "subst" "1.17497E-5" "01804" "NLGN4X_000060" "g.5821575C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1144G>A (p.G382S), NLGN4X(NM_020742.2):c.1144G>A (p.(Gly382Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682558" "0" "50" "X" "5821677" "5821677" "subst" "6.71126E-5" "02325" "NLGN4X_000038" "g.5821677C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1042G>A (p.V348I), NLGN4X(NM_001282145.2):c.1042G>A (p.V348I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682560" "0" "50" "X" "5947338" "5947338" "subst" "0" "01943" "NLGN4X_000066" "g.5947338T>C" "" "" "" "NLGN4X(NM_001282145.1):c.608A>G (p.Y203C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682564" "0" "70" "X" "6069207" "6069207" "subst" "0" "02327" "NLGN4X_000064" "g.6069207G>A" "" "" "" "NLGN4X(NM_001282145.2):c.301C>T (p.R101*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682565" "0" "30" "X" "6069453" "6069453" "subst" "0" "01943" "NLGN4X_000067" "g.6069453C>T" "" "" "" "NLGN4X(NM_001282145.1):c.55G>A (p.V19I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682566" "0" "30" "X" "6069454" "6069454" "subst" "0" "01943" "NLGN4X_000068" "g.6069454G>A" "" "" "" "NLGN4X(NM_001282145.1):c.54C>T (p.C18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683328" "0" "70" "X" "6069052" "6069052" "subst" "0" "00006" "NLGN4X_000069" "g.6069052G>C" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.6151011G>C" "" "likely pathogenic" "" "0000693682" "0" "30" "X" "5811332" "5811332" "subst" "8.39903E-5" "01943" "NLGN4X_000070" "g.5811332C>G" "" "" "" "NLGN4X(NM_001282145.1):c.1977G>C (p.E659D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693683" "0" "30" "X" "6069437" "6069437" "subst" "3.91613E-5" "01943" "NLGN4X_000071" "g.6069437T>C" "" "" "" "NLGN4X(NM_001282145.1):c.71A>G (p.N24S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729088" "0" "50" "X" "5811276" "5811276" "subst" "0" "02329" "NLGN4X_000033" "g.5811276G>A" "" "" "" "NLGN4X(NM_001282145.2):c.2033C>T (p.T678I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729089" "0" "30" "X" "5811605" "5811605" "subst" "1.68004E-5" "01943" "NLGN4X_000072" "g.5811605G>C" "" "" "" "NLGN4X(NM_001282145.1):c.1704C>G (p.L568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729090" "0" "30" "X" "5821156" "5821156" "subst" "6.72593E-5" "01943" "NLGN4X_000073" "g.5821156G>A" "" "" "" "NLGN4X(NM_001282145.1):c.1563C>T (p.A521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729091" "0" "30" "X" "5821360" "5821360" "subst" "5.62265E-6" "01943" "NLGN4X_000074" "g.5821360G>A" "" "" "" "NLGN4X(NM_001282145.1):c.1359C>T (p.A453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729092" "0" "50" "X" "5821389" "5821389" "subst" "0" "01943" "NLGN4X_000075" "g.5821389A>G" "" "" "" "NLGN4X(NM_001282145.1):c.1330T>C (p.F444L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729093" "0" "50" "X" "5821872" "5821872" "subst" "0" "02329" "NLGN4X_000040" "g.5821872C>T" "" "" "" "NLGN4X(NM_001282145.1):c.847G>A (p.A283T), NLGN4X(NM_001282145.2):c.847G>A (p.A283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729094" "0" "30" "X" "5947485" "5947485" "dup" "0" "01943" "NLGN4X_000041" "g.5947485dup" "" "" "" "NLGN4X(NM_001282145.1):c.473-5dupT, NLGN4X(NM_020742.2):c.473-5_473-4insT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810564" "0" "30" "X" "5811290" "5811290" "subst" "1.11993E-5" "01943" "NLGN4X_000076" "g.5811290G>A" "" "" "" "NLGN4X(NM_001282145.1):c.2019C>T (p.T673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810565" "0" "50" "X" "5821551" "5821551" "subst" "0" "02325" "NLGN4X_000059" "g.5821551C>T" "" "" "" "NLGN4X(NM_001282145.1):c.1168G>A (p.V390M), NLGN4X(NM_020742.4):c.1168G>A (p.V390M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810566" "0" "30" "X" "5821764" "5821764" "subst" "0.000218109" "01943" "NLGN4X_000077" "g.5821764G>T" "" "" "" "NLGN4X(NM_001282145.1):c.955C>A (p.R319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810567" "0" "30" "X" "5821783" "5821783" "subst" "1.67775E-5" "01943" "NLGN4X_000078" "g.5821783C>T" "" "" "" "NLGN4X(NM_001282145.1):c.936G>A (p.T312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810568" "0" "50" "X" "5821872" "5821872" "subst" "0" "01943" "NLGN4X_000040" "g.5821872C>T" "" "" "" "NLGN4X(NM_001282145.1):c.847G>A (p.A283T), NLGN4X(NM_001282145.2):c.847G>A (p.A283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810570" "0" "30" "X" "5947355" "5947355" "subst" "0.000962669" "01943" "NLGN4X_000079" "g.5947355G>A" "" "" "" "NLGN4X(NM_001282145.1):c.591C>T (p.I197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828495" "0" "50" "X" "5748782" "10477366" "del" "0" "00000" "NLGN4X_000080" "g.5748782_10477366del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous" "no gene indicated in publication!" "Germline" "yes" "" "0" "" "" "g.5830745_10559329del" "" "VUS" "ACMG" "0000856721" "0" "30" "X" "5821522" "5821522" "subst" "6.61398E-6" "01943" "NLGN4X_000081" "g.5821522C>G" "" "" "" "NLGN4X(NM_001282145.1):c.1197G>C (p.V399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856723" "0" "30" "X" "6069317" "6069317" "subst" "5.03426E-5" "01943" "NLGN4X_000083" "g.6069317T>C" "" "" "" "NLGN4X(NM_001282145.1):c.191A>G (p.N64S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867489" "0" "30" "X" "6069097" "6069097" "subst" "0.000100699" "01943" "NLGN4X_000082" "g.6069097G>A" "" "" "" "NLGN4X(NM_001282145.1):c.411C>T (p.T137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896305" "0" "50" "X" "5821232" "5821232" "subst" "0" "02327" "NLGN4X_000084" "g.5821232A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952351" "3" "50" "X" "6069437" "6069437" "subst" "3.91613E-5" "00006" "NLGN4X_000071" "g.6069437T>C" "" "{PMID:Chatron 2020:32282878}" "" "NM_001282146:c.71A>G" "" "Germline" "" "" "0" "" "" "g.6151396T>C" "" "VUS" "" "0000952364" "3" "50" "X" "6069437" "6069437" "subst" "3.91613E-5" "00006" "NLGN4X_000071" "g.6069437T>C" "" "{PMID:Chatron 2020:32282878}" "" "NM_001282146:c.71A>G" "" "Germline" "" "" "0" "" "" "g.6151396T>C" "" "VUS" "" "0001006893" "0" "50" "X" "6069149" "6069149" "subst" "0" "01804" "NLGN4X_000085" "g.6069149A>G" "" "" "" "NLGN4X(NM_181332.1):c.359T>C (p.(Leu120Pro))" "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 NLGN4X ## Count = 89 "{{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}}" "0000001317" "00000134" "50" "2735" "0" "2735" "0" "c.*284G>A" "r.(=)" "p.(=)" "" "0000001775" "00000134" "50" "-585" "0" "-584" "0" "c.-585_-584del" "" "p.(=)" "" "0000002761" "00000134" "50" "-576" "0" "-575" "0" "c.-576_-575del" "" "p.(=)" "" "0000006241" "00000134" "50" "4448" "0" "4448" "0" "c.*1997C>T" "r.(=)" "p.(=)" "" "0000006242" "00000134" "50" "3219" "0" "3219" "0" "c.*768T>C" "r.(=)" "p.(=)" "" "0000006243" "00000134" "50" "2735" "0" "2735" "0" "c.*284G>A" "r.(=)" "p.(=)" "" "0000006244" "00000134" "50" "1601" "157" "1601" "157" "c.1601+157C>A" "r.(=)" "p.(=)" "" "0000006245" "00000134" "50" "625" "27171" "625" "27171" "c.625+27171G>A" "r.(=)" "p.(=)" "" "0000006246" "00000134" "50" "625" "27060" "625" "27060" "c.625+27060C>T" "r.(=)" "p.(=)" "" "0000006247" "00000134" "50" "-799" "0" "-799" "0" "c.-799G>A" "" "p.(=)" "" "0000008238" "00000134" "50" "4448" "0" "4448" "0" "c.*1997C>T" "r.(=)" "p.(=)" "" "0000008239" "00000134" "50" "3219" "0" "3219" "0" "c.*768T>C" "r.(=)" "p.(=)" "" "0000008240" "00000134" "50" "2735" "0" "2735" "0" "c.*284G>A" "r.(=)" "p.(=)" "" "0000008241" "00000134" "50" "1601" "157" "1601" "157" "c.1601+157C>A" "r.(=)" "p.(=)" "" "0000008242" "00000134" "50" "625" "27171" "625" "27171" "c.625+27171G>A" "r.(=)" "p.(=)" "" "0000008243" "00000134" "50" "625" "27060" "625" "27060" "c.625+27060C>T" "r.(=)" "p.(=)" "" "0000008244" "00000134" "50" "-585" "0" "-584" "0" "c.-585_-584del" "" "p.(=)" "" "0000010758" "00000134" "50" "473" "-252" "473" "-251" "c.473-252_473-251dup" "r.(=)" "p.(=)" "" "0000010759" "00000134" "50" "-576" "0" "-575" "0" "c.-576_-575del" "" "p.(=)" "" "0000014204" "00000134" "50" "-799" "0" "-799" "0" "c.-799G>A" "" "p.(=)" "" "0000296495" "00000134" "10" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Leu593Phe)" "" "0000296496" "00000134" "50" "2015" "0" "2015" "0" "c.2015C>A" "r.(?)" "p.(Ser672Tyr)" "" "0000296497" "00000134" "30" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asn131Ser)" "" "0000298578" "00000134" "50" "2035" "0" "2035" "0" "c.2035A>G" "r.(?)" "p.(Ile679Val)" "" "0000304192" "00000134" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Val348Ile)" "" "0000304193" "00000134" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Thr456=)" "" "0000304194" "00000134" "10" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Leu593Phe)" "" "0000304195" "00000134" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Tyr760=)" "" "0000333036" "00000134" "50" "2246" "0" "2246" "0" "c.2246A>T" "r.(?)" "p.(His749Leu)" "" "0000333041" "00000134" "50" "473" "-5" "473" "-5" "c.473-5dup" "r.spl?" "p.?" "" "0000333042" "00000134" "30" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asn131Ser)" "" "0000333043" "00000134" "50" "115" "0" "115" "0" "c.115A>G" "r.(?)" "p.(Ile39Val)" "" "0000343450" "00000134" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87Gln)" "" "0000343591" "00000134" "30" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asn131Ser)" "" "0000346694" "00000134" "50" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Ile338Val)" "" "0000347244" "00000134" "30" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Leu593Phe)" "" "0000401208" "00000134" "30" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(=)" "6" "0000401209" "00000134" "30" "2253" "0" "2253" "0" "c.2253A>G" "r.(?)" "p.(=)" "6" "0000401210" "00000134" "30" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(=)" "6" "0000401211" "00000134" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(=)" "5" "0000401212" "00000134" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Ala722Thr)" "6" "0000401213" "00000134" "50" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Leu593Phe)" "6" "0000401214" "00000134" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Leu773Phe)" "6" "0000401215" "00000134" "50" "2388" "0" "2388" "0" "c.2388C>A" "r.(?)" "p.(Asn796Lys)" "6" "0000401216" "00000134" "50" "2360" "0" "2360" "0" "c.2360C>T" "r.(?)" "p.(Thr787Met)" "6" "0000576847" "00000134" "30" "2246" "0" "2246" "0" "c.2246A>G" "r.(?)" "p.(His749Arg)" "" "0000576848" "00000134" "50" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Val681Ile)" "" "0000576849" "00000134" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Met)" "" "0000576850" "00000134" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Val390Met)" "" "0000576851" "00000134" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "" "0000576852" "00000134" "10" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Thr311=)" "" "0000576853" "00000134" "10" "897" "0" "897" "0" "c.897A>G" "r.(?)" "p.(Ile299Met)" "" "0000576854" "00000134" "50" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Ala283Thr)" "" "0000576870" "00000134" "30" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asn131Ser)" "" "0000619747" "00000134" "50" "2354" "0" "2354" "0" "c.2354C>A" "r.(?)" "p.(Thr785Lys)" "" "0000619748" "00000134" "30" "811" "9" "811" "9" "c.811+9G>T" "r.(=)" "p.(=)" "" "0000659400" "00000134" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Pro433=)" "" "0000659404" "00000134" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Ter)" "" "0000682556" "00000134" "50" "2410" "0" "2410" "0" "c.2410A>T" "r.(?)" "p.(Ser804Cys)" "" "0000682557" "00000134" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "" "0000682558" "00000134" "50" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Val348Ile)" "" "0000682560" "00000134" "50" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Tyr203Cys)" "" "0000682564" "00000134" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Ter)" "" "0000682565" "00000134" "30" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Val19Ile)" "" "0000682566" "00000134" "30" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(Cys18=)" "" "0000683328" "00000134" "70" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Tyr152*)" "" "0000693682" "00000134" "30" "1977" "0" "1977" "0" "c.1977G>C" "r.(?)" "p.(Glu659Asp)" "" "0000693683" "00000134" "30" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Asn24Ser)" "" "0000729088" "00000134" "50" "2033" "0" "2033" "0" "c.2033C>T" "r.(?)" "p.(Thr678Ile)" "" "0000729089" "00000134" "30" "1704" "0" "1704" "0" "c.1704C>G" "r.(?)" "p.(Leu568=)" "" "0000729090" "00000134" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Ala521=)" "" "0000729091" "00000134" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ala453=)" "" "0000729092" "00000134" "50" "1330" "0" "1330" "0" "c.1330T>C" "r.(?)" "p.(Phe444Leu)" "" "0000729093" "00000134" "50" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Ala283Thr)" "" "0000729094" "00000134" "30" "473" "-5" "473" "-5" "c.473-5dup" "r.spl?" "p.?" "" "0000810564" "00000134" "30" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Thr673=)" "" "0000810565" "00000134" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Val390Met)" "" "0000810566" "00000134" "30" "955" "0" "955" "0" "c.955C>A" "r.(?)" "p.(Arg319=)" "" "0000810567" "00000134" "30" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Thr312=)" "" "0000810568" "00000134" "50" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Ala283Thr)" "" "0000810570" "00000134" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Ile197=)" "" "0000828495" "00000134" "50" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000856721" "00000134" "30" "1197" "0" "1197" "0" "c.1197G>C" "r.(?)" "p.(Val399=)" "" "0000856723" "00000134" "30" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Asn64Ser)" "" "0000867489" "00000134" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Thr137=)" "" "0000896305" "00000134" "50" "1487" "0" "1487" "0" "c.1487T>A" "r.(?)" "p.(Val496Asp)" "" "0000952351" "00000134" "50" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Asn24Ser)" "" "0000952364" "00000134" "50" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Asn24Ser)" "" "0001006893" "00000134" "50" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Leu120Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000000029" "0000001317" "0000000209" "0000001775" "0000000209" "0000002761" "0000000209" "0000006241" "0000000209" "0000006242" "0000000209" "0000006243" "0000000209" "0000006244" "0000000209" "0000006245" "0000000209" "0000006246" "0000000209" "0000006247" "0000000210" "0000008238" "0000000210" "0000008239" "0000000210" "0000008240" "0000000210" "0000008241" "0000000210" "0000008242" "0000000210" "0000008243" "0000000210" "0000008244" "0000000210" "0000010758" "0000000210" "0000010759" "0000000210" "0000014204" "0000174202" "0000401208" "0000174203" "0000401209" "0000174204" "0000401210" "0000174205" "0000401211" "0000174338" "0000401212" "0000174448" "0000401213" "0000174449" "0000401214" "0000174469" "0000401215" "0000174567" "0000401216" "0000308894" "0000683328" "0000396813" "0000828495" "0000445376" "0000952351" "0000445377" "0000952364"