### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC6A5) # 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}}" "SLC6A5" "solute carrier family 6 (neurotransmitter transporter, glycine), member 5" "11" "p15.1" "unknown" "NG_013086.2" "UD_132118719556" "" "https://www.LOVD.nl/SLC6A5" "" "1" "11051" "9152" "604159" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC6A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-23 14:50:48" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019038" "SLC6A5" "solute carrier family 6 (neurotransmitter transporter, glycine), member 5" "001" "NM_004211.3" "" "NP_004202.2" "" "" "" "-273" "2590" "2394" "20620946" "20676610" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03689" "HKPX3" "hyperekplexia, type 3 (HKPX-3)" "AD;AR" "614618" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC6A5" "03689" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00290338" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290339" "" "" "" "126" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304299" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374504" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3390" "00438399" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat118" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00290338" "00198" "00290339" "00198" "00304299" "00198" "00374504" "00198" "00438399" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03689, 04270 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000269714" "00198" "00374504" "00006" "Familial, autosomal recessive" "" "Hyperekplexia, global developmental delay and autistic features" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000328303" "04270" "00438399" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0001188 hand clenching; HP:0001276 hypertonia; HP:0001298 encephalopathy; HP:0001281 tetany; HP:0002353 eeg abnormality" "23d" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291506" "00290338" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291507" "00290339" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305428" "00304299" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375698" "00374504" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000439881" "00438399" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000375698" "SLC6A5" ## 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 = 66 "{{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}}" "0000248638" "0" "10" "11" "20639400" "20639400" "subst" "0.999111" "02325" "SLC6A5_000014" "g.20639400A>G" "" "" "" "SLC6A5(NM_004211.5):c.1230A>G (p.S410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20617854A>G" "" "benign" "" "0000251169" "0" "10" "11" "20649626" "20649626" "subst" "0.0037796" "02326" "SLC6A5_000015" "g.20649626A>T" "" "" "" "SLC6A5(NM_004211.5):c.1496A>T (p.Y499F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20628080A>T" "" "benign" "" "0000251486" "0" "10" "11" "20621128" "20621128" "subst" "0" "02326" "SLC6A5_000001" "g.20621128A>G" "" "" "" "SLC6A5(NM_004211.5):c.-91A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20599582A>G" "" "benign" "" "0000251995" "0" "30" "11" "20673878" "20673878" "subst" "0.00245667" "02326" "SLC6A5_000021" "g.20673878A>G" "" "" "" "SLC6A5(NM_004211.3):c.2114A>G (p.(Tyr705Cys)), SLC6A5(NM_004211.4):c.2114A>G (p.Y705C), SLC6A5(NM_004211.5):c.2114A>G (p.Y705C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20652332A>G" "" "likely benign" "" "0000298349" "0" "10" "11" "20673867" "20673867" "subst" "0.468447" "02325" "SLC6A5_000020" "g.20673867G>A" "" "" "" "SLC6A5(NM_004211.5):c.2103G>A (p.E701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20652321G>A" "" "benign" "" "0000298350" "0" "10" "11" "20622937" "20622937" "subst" "0.0207828" "02325" "SLC6A5_000003" "g.20622937C>A" "" "" "" "SLC6A5(NM_004211.5):c.266C>A (p.A89E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601391C>A" "" "benign" "" "0000298351" "0" "10" "11" "20622975" "20622975" "subst" "0.368835" "02325" "SLC6A5_000004" "g.20622975G>A" "" "" "" "SLC6A5(NM_004211.5):c.304G>A (p.G102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601429G>A" "" "benign" "" "0000298352" "0" "10" "11" "20623042" "20623042" "subst" "0.771566" "02325" "SLC6A5_000007" "g.20623042T>C" "" "" "" "SLC6A5(NM_004211.5):c.371T>C (p.F124S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601496T>C" "" "benign" "" "0000298353" "0" "10" "11" "20623156" "20623156" "subst" "0.998607" "02325" "SLC6A5_000009" "g.20623156C>G" "" "" "" "SLC6A5(NM_004211.5):c.485C>G (p.A162G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601610C>G" "" "benign" "" "0000302283" "0" "30" "11" "20636285" "20636285" "subst" "0.000133999" "02326" "SLC6A5_000013" "g.20636285C>T" "" "" "" "SLC6A5(NM_004211.5):c.1046C>T (p.T349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20614739C>T" "" "likely benign" "" "0000302284" "0" "30" "11" "20658710" "20658711" "del" "0.000125934" "02326" "SLC6A5_000016" "g.20658710_20658711del" "" "" "" "SLC6A5(NM_004211.5):c.1738-8_1738-7delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637164_20637165del" "" "likely benign" "" "0000302285" "0" "70" "11" "20658786" "20658786" "subst" "2.0312E-5" "02326" "SLC6A5_000017" "g.20658786G>T" "" "" "" "SLC6A5(NM_004211.5):c.1806G>T (p.K602N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637240G>T" "" "likely pathogenic" "" "0000302286" "0" "10" "11" "20668480" "20668480" "subst" "0.00287508" "02326" "SLC6A5_000019" "g.20668480C>T" "" "" "" "SLC6A5(NM_004211.4):c.2070C>T (p.T690=), SLC6A5(NM_004211.5):c.2070C>T (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20646934C>T" "" "benign" "" "0000302287" "0" "10" "11" "20673867" "20673867" "subst" "0.468447" "02326" "SLC6A5_000020" "g.20673867G>A" "" "" "" "SLC6A5(NM_004211.5):c.2103G>A (p.E701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20652321G>A" "" "benign" "" "0000302288" "0" "10" "11" "20622937" "20622937" "subst" "0.0207828" "02326" "SLC6A5_000003" "g.20622937C>A" "" "" "" "SLC6A5(NM_004211.5):c.266C>A (p.A89E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601391C>A" "" "benign" "" "0000302289" "0" "10" "11" "20623007" "20623007" "subst" "0.231818" "02326" "SLC6A5_000005" "g.20623007C>T" "" "" "" "SLC6A5(NM_004211.5):c.336C>T (p.S112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601461C>T" "" "benign" "" "0000302290" "0" "10" "11" "20623023" "20623023" "subst" "0.33183" "02326" "SLC6A5_000006" "g.20623023C>T" "" "" "" "SLC6A5(NM_004211.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601477C>T" "" "benign" "" "0000302291" "0" "30" "11" "20623066" "20623066" "subst" "0.00452297" "02326" "SLC6A5_000008" "g.20623066C>G" "" "" "" "SLC6A5(NM_004211.5):c.395C>G (p.A132G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601520C>G" "" "likely benign" "" "0000302292" "0" "30" "11" "20623171" "20623171" "subst" "0.00449797" "02326" "SLC6A5_000010" "g.20623171C>A" "" "" "" "SLC6A5(NM_004211.5):c.500C>A (p.T167K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601625C>A" "" "likely benign" "" "0000302293" "0" "30" "11" "20622730" "20622730" "subst" "0.000412964" "02326" "SLC6A5_000002" "g.20622730C>T" "" "" "" "SLC6A5(NM_004211.5):c.59C>T (p.A20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20601184C>T" "" "likely benign" "" "0000302294" "0" "30" "11" "20628700" "20628700" "subst" "0.0143993" "02326" "SLC6A5_000012" "g.20628700C>T" "" "" "" "SLC6A5(NM_004211.5):c.811+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20607154C>T" "" "likely benign" "" "0000322156" "0" "50" "11" "20660045" "20660045" "subst" "1.21878E-5" "01804" "SLC6A5_000018" "g.20660045C>G" "" "" "" "SLC6A5(NM_004211.3):c.1910C>G (p.(Ala637Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20638499C>G" "" "VUS" "" "0000543425" "0" "10" "11" "20623007" "20623007" "subst" "0.231818" "02325" "SLC6A5_000005" "g.20623007C>T" "" "" "" "SLC6A5(NM_004211.5):c.336C>T (p.S112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20601461C>T" "" "benign" "" "0000543426" "0" "10" "11" "20623023" "20623023" "subst" "0.33183" "02325" "SLC6A5_000006" "g.20623023C>T" "" "" "" "SLC6A5(NM_004211.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20601477C>T" "" "benign" "" "0000543429" "0" "50" "11" "20623216" "20623216" "subst" "0" "01804" "SLC6A5_000024" "g.20623216G>T" "" "" "" "SLC6A5(NM_004211.3):c.540+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20601670G>T" "" "VUS" "" "0000543431" "0" "50" "11" "20648270" "20648270" "subst" "5.69467E-5" "02325" "SLC6A5_000026" "g.20648270C>G" "" "" "" "SLC6A5(NM_004211.5):c.1277C>G (p.A426G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20626724C>G" "" "VUS" "" "0000543432" "0" "10" "11" "20648364" "20648364" "subst" "0.133103" "02325" "SLC6A5_000027" "g.20648364G>C" "" "" "" "SLC6A5(NM_004211.5):c.1371G>C (p.K457N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20626818G>C" "" "benign" "" "0000543433" "0" "10" "11" "20648380" "20648380" "subst" "0.225614" "02325" "SLC6A5_000028" "g.20648380G>A" "" "" "" "SLC6A5(NM_004211.5):c.1387G>A (p.D463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20626834G>A" "" "benign" "" "0000543436" "0" "50" "11" "20657855" "20657855" "subst" "0.000113791" "01943" "SLC6A5_000030" "g.20657855C>T" "" "" "" "SLC6A5(NM_004211.4):c.1627C>T (p.P543S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20636309C>T" "" "VUS" "" "0000543437" "0" "10" "11" "20673832" "20673832" "subst" "0.160746" "02325" "SLC6A5_000031" "g.20673832C>A" "" "" "" "SLC6A5(NM_004211.5):c.2071-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20652286C>A" "" "benign" "" "0000543438" "0" "30" "11" "20673878" "20673878" "subst" "0.00245667" "01943" "SLC6A5_000021" "g.20673878A>G" "" "" "" "SLC6A5(NM_004211.3):c.2114A>G (p.(Tyr705Cys)), SLC6A5(NM_004211.4):c.2114A>G (p.Y705C), SLC6A5(NM_004211.5):c.2114A>G (p.Y705C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20652332A>G" "" "likely benign" "" "0000543439" "0" "10" "11" "20676253" "20676253" "subst" "0.153886" "02325" "SLC6A5_000032" "g.20676253T>C" "" "" "" "SLC6A5(NM_004211.5):c.2239-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654707T>C" "" "benign" "" "0000543441" "0" "30" "11" "20676319" "20676319" "subst" "0.0214649" "02326" "SLC6A5_000033" "g.20676319G>A" "" "" "" "SLC6A5(NM_004211.5):c.2299G>A (p.G767R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654773G>A" "" "likely benign" "" "0000543442" "0" "30" "11" "20676326" "20676326" "subst" "0.000751208" "02325" "SLC6A5_000034" "g.20676326G>A" "" "" "" "SLC6A5(NM_004211.4):c.2306G>A (p.R769H), SLC6A5(NM_004211.5):c.2306G>A (p.R769H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654780G>A" "" "likely benign" "" "0000543443" "0" "10" "11" "20676417" "20676417" "subst" "0.177295" "02325" "SLC6A5_000035" "g.20676417C>T" "" "" "" "SLC6A5(NM_004211.5):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654871C>T" "" "benign" "" "0000613239" "0" "30" "11" "20676310" "20676310" "subst" "9.33957E-5" "01943" "SLC6A5_000037" "g.20676310C>G" "" "" "" "SLC6A5(NM_004211.4):c.2290C>G (p.Q764E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654764C>G" "" "likely benign" "" "0000622612" "0" "30" "11" "20622767" "20622767" "subst" "0" "01943" "SLC6A5_000036" "g.20622767C>T" "" "" "" "SLC6A5(NM_004211.4):c.96C>T (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20601221C>T" "" "likely benign" "" "0000648195" "1" "30" "11" "20622937" "20622937" "subst" "0.0207828" "03575" "SLC6A5_000003" "g.20622937C>A" "24/2780 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs61736602}" "Germline" "" "rs61736602" "0" "" "" "g.20601391C>A" "" "likely benign" "" "0000648196" "1" "10" "11" "20676319" "20676319" "subst" "0.0214649" "03575" "SLC6A5_000033" "g.20676319G>A" "126/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "126 heterozygous; {DB:CLININrs16906628}" "Germline" "" "rs16906628" "0" "" "" "g.20654773G>A" "" "benign" "" "0000656754" "0" "30" "11" "20676386" "20676386" "subst" "0.00110041" "02326" "SLC6A5_000038" "g.20676386A>G" "" "" "" "SLC6A5(NM_004211.5):c.2366A>G (p.(Lys789Arg), p.K789R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654840A>G" "" "likely benign" "" "0000669116" "3" "10" "11" "20676319" "20676319" "subst" "0.0214649" "03575" "SLC6A5_000033" "g.20676319G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs16906628}" "Germline" "" "rs16906628" "0" "" "" "g.20654773G>A" "" "benign" "" "0000691029" "0" "30" "11" "20622794" "20622794" "subst" "0" "01943" "SLC6A5_000039" "g.20622794C>A" "" "" "" "SLC6A5(NM_004211.4):c.123C>A (p.P41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691030" "0" "30" "11" "20668480" "20668480" "subst" "0.00287508" "01943" "SLC6A5_000019" "g.20668480C>T" "" "" "" "SLC6A5(NM_004211.4):c.2070C>T (p.T690=), SLC6A5(NM_004211.5):c.2070C>T (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723361" "0" "50" "11" "20636285" "20636285" "subst" "0.000133999" "02325" "SLC6A5_000013" "g.20636285C>T" "" "" "" "SLC6A5(NM_004211.5):c.1046C>T (p.T349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723362" "0" "30" "11" "20658843" "20658843" "subst" "0.00022764" "02326" "SLC6A5_000040" "g.20658843C>T" "" "" "" "SLC6A5(NM_004211.5):c.1863C>T (p.I621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787049" "3" "70" "11" "20625972" "20625972" "subst" "0" "00006" "SLC6A5_000041" "g.20625972T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.20604426T>C" "" "likely pathogenic" "" "0000805061" "0" "30" "11" "20676326" "20676326" "subst" "0.000751208" "01943" "SLC6A5_000034" "g.20676326G>A" "" "" "" "SLC6A5(NM_004211.4):c.2306G>A (p.R769H), SLC6A5(NM_004211.5):c.2306G>A (p.R769H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852853" "0" "30" "11" "20649632" "20649632" "subst" "8.12909E-6" "01943" "SLC6A5_000042" "g.20649632A>G" "" "" "" "SLC6A5(NM_004211.4):c.1499+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889754" "0" "50" "11" "20658776" "20658776" "subst" "0.00013405" "02325" "SLC6A5_000043" "g.20658776G>T" "" "" "" "SLC6A5(NM_004211.5):c.1796G>T (p.R599L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889755" "0" "50" "11" "20673889" "20673889" "subst" "8.12123E-5" "02325" "SLC6A5_000044" "g.20673889C>T" "" "" "" "SLC6A5(NM_004211.5):c.2125C>T (p.R709C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913550" "0" "50" "11" "20622840" "20622840" "subst" "6.0451E-5" "02325" "SLC6A5_000045" "g.20622840A>G" "" "" "" "SLC6A5(NM_004211.5):c.169A>G (p.T57A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936010" "1" "90" "11" "20648267" "20648267" "subst" "3.25418E-5" "00006" "SLC6A5_000046" "g.20648267C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.20626721C>T" "" "pathogenic" "" "0000936042" "2" "70" "11" "20660005" "20660005" "subst" "0" "00006" "SLC6A5_000047" "g.20660005G>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline" "" "" "0" "" "" "g.20638459G>C" "" "likely pathogenic" "ACMG" "0000979512" "0" "50" "11" "20657963" "20657963" "subst" "4.87956E-5" "01804" "SLC6A5_000048" "g.20657963A>G" "" "" "" "SLC6A5(NM_004211.3):c.1735A>G (p.(Met579Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998945" "0" "30" "11" "20622761" "20622761" "subst" "0" "01804" "SLC6A5_000049" "g.20622761C>G" "" "" "" "SLC6A5(NM_004211.3):c.90C>G (p.(Cys30Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998946" "0" "50" "11" "20623108" "20623108" "subst" "0" "01804" "SLC6A5_000050" "g.20623108C>A" "" "" "" "SLC6A5(NM_004211.3):c.437C>A (p.(Thr146Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998947" "0" "50" "11" "20668453" "20668453" "subst" "0" "01804" "SLC6A5_000051" "g.20668453G>A" "" "" "" "SLC6A5(NM_004211.3):c.2043G>A (p.(Trp681*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998948" "0" "30" "11" "20673878" "20673878" "subst" "0.00245667" "01804" "SLC6A5_000021" "g.20673878A>G" "" "" "" "SLC6A5(NM_004211.3):c.2114A>G (p.(Tyr705Cys)), SLC6A5(NM_004211.4):c.2114A>G (p.Y705C), SLC6A5(NM_004211.5):c.2114A>G (p.Y705C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014777" "0" "50" "11" "20676287" "20676287" "subst" "6.09112E-5" "02325" "SLC6A5_000052" "g.20676287C>T" "" "" "" "SLC6A5(NM_004211.5):c.2267C>T (p.P756L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025954" "0" "50" "11" "20648309" "20648309" "subst" "2.03242E-5" "02325" "SLC6A5_000053" "g.20648309G>A" "" "" "" "SLC6A5(NM_004211.5):c.1316G>A (p.(Arg439Gln), p.R439Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038390" "0" "50" "11" "20639339" "20639339" "subst" "0.000511658" "01804" "SLC6A5_000054" "g.20639339G>T" "" "" "" "SLC6A5(NM_004211.5):c.1169G>T (p.(Gly390Val), p.G390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038391" "0" "50" "11" "20639339" "20639339" "subst" "0.000511658" "02325" "SLC6A5_000054" "g.20639339G>T" "" "" "" "SLC6A5(NM_004211.5):c.1169G>T (p.(Gly390Val), p.G390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038392" "0" "50" "11" "20648309" "20648309" "subst" "2.03242E-5" "01804" "SLC6A5_000053" "g.20648309G>A" "" "" "" "SLC6A5(NM_004211.5):c.1316G>A (p.(Arg439Gln), p.R439Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038393" "0" "30" "11" "20658711" "20658711" "subst" "0" "01804" "SLC6A5_000055" "g.20658711G>C" "" "" "" "SLC6A5(NM_004211.5):c.1738-7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038394" "0" "50" "11" "20668380" "20668380" "subst" "4.06105E-6" "01804" "SLC6A5_000056" "g.20668380G>C" "" "" "" "SLC6A5(NM_004211.5):c.1970G>C (p.(Gly657Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038395" "0" "30" "11" "20676386" "20676386" "subst" "0.00110041" "01804" "SLC6A5_000038" "g.20676386A>G" "" "" "" "SLC6A5(NM_004211.5):c.2366A>G (p.(Lys789Arg), p.K789R)" "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 SLC6A5 ## Count = 66 "{{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}}" "0000248638" "00019038" "10" "1230" "0" "1230" "0" "c.1230A>G" "r.(?)" "p.(Ser410=)" "" "0000251169" "00019038" "10" "1496" "0" "1496" "0" "c.1496A>T" "r.(?)" "p.(Tyr499Phe)" "" "0000251486" "00019038" "10" "-91" "0" "-91" "0" "c.-91A>G" "r.(?)" "p.(=)" "" "0000251995" "00019038" "30" "2114" "0" "2114" "0" "c.2114A>G" "r.(?)" "p.(Tyr705Cys)" "" "0000298349" "00019038" "10" "2103" "0" "2103" "0" "c.2103G>A" "r.(?)" "p.(Glu701=)" "" "0000298350" "00019038" "10" "266" "0" "266" "0" "c.266C>A" "r.(?)" "p.(Ala89Glu)" "" "0000298351" "00019038" "10" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "" "0000298352" "00019038" "10" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Phe124Ser)" "" "0000298353" "00019038" "10" "485" "0" "485" "0" "c.485C>G" "r.(?)" "p.(Ala162Gly)" "" "0000302283" "00019038" "30" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Thr349Ile)" "" "0000302284" "00019038" "30" "1738" "-8" "1738" "-7" "c.1738-8_1738-7del" "r.(=)" "p.(=)" "" "0000302285" "00019038" "70" "1806" "0" "1806" "0" "c.1806G>T" "r.(?)" "p.(Lys602Asn)" "" "0000302286" "00019038" "10" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(Thr690=)" "" "0000302287" "00019038" "10" "2103" "0" "2103" "0" "c.2103G>A" "r.(?)" "p.(Glu701=)" "" "0000302288" "00019038" "10" "266" "0" "266" "0" "c.266C>A" "r.(?)" "p.(Ala89Glu)" "" "0000302289" "00019038" "10" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Ser112=)" "" "0000302290" "00019038" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000302291" "00019038" "30" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ala132Gly)" "" "0000302292" "00019038" "30" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Thr167Lys)" "" "0000302293" "00019038" "30" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Ala20Val)" "" "0000302294" "00019038" "30" "811" "16" "811" "16" "c.811+16C>T" "r.(=)" "p.(=)" "" "0000322156" "00019038" "50" "1910" "0" "1910" "0" "c.1910C>G" "r.(?)" "p.(Ala637Gly)" "" "0000543425" "00019038" "10" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Ser112=)" "" "0000543426" "00019038" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000543429" "00019038" "50" "540" "5" "540" "5" "c.540+5G>T" "r.spl?" "p.?" "" "0000543431" "00019038" "50" "1277" "0" "1277" "0" "c.1277C>G" "r.(?)" "p.(Ala426Gly)" "" "0000543432" "00019038" "10" "1371" "0" "1371" "0" "c.1371G>C" "r.(?)" "p.(Lys457Asn)" "" "0000543433" "00019038" "10" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Asp463Asn)" "" "0000543436" "00019038" "50" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Pro543Ser)" "" "0000543437" "00019038" "10" "2071" "-3" "2071" "-3" "c.2071-3C>A" "r.spl?" "p.?" "" "0000543438" "00019038" "30" "2114" "0" "2114" "0" "c.2114A>G" "r.(?)" "p.(Tyr705Cys)" "" "0000543439" "00019038" "10" "2239" "-6" "2239" "-6" "c.2239-6T>C" "r.(=)" "p.(=)" "" "0000543441" "00019038" "30" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Gly767Arg)" "" "0000543442" "00019038" "30" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769His)" "" "0000543443" "00019038" "10" "2397" "0" "2397" "0" "c.*3C>T" "r.(=)" "p.(=)" "" "0000613239" "00019038" "30" "2290" "0" "2290" "0" "c.2290C>G" "r.(?)" "p.(Gln764Glu)" "" "0000622612" "00019038" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Pro32=)" "" "0000648195" "00019038" "30" "266" "0" "266" "0" "c.266C>A" "r.(?)" "p.(Ala89Glu)" "" "0000648196" "00019038" "10" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Gly767Arg)" "" "0000656754" "00019038" "30" "2366" "0" "2366" "0" "c.2366A>G" "r.(?)" "p.(Lys789Arg)" "" "0000669116" "00019038" "10" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Gly767Arg)" "" "0000691029" "00019038" "30" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Pro41=)" "" "0000691030" "00019038" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(Thr690=)" "" "0000723361" "00019038" "50" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Thr349Ile)" "" "0000723362" "00019038" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Ile621=)" "" "0000787049" "00019038" "70" "679" "2" "679" "2" "c.679+2T>C" "r.spl" "p.?" "3i" "0000805061" "00019038" "30" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769His)" "" "0000852853" "00019038" "30" "1499" "3" "1499" "3" "c.1499+3A>G" "r.spl?" "p.?" "" "0000889754" "00019038" "50" "1796" "0" "1796" "0" "c.1796G>T" "r.(?)" "p.(Arg599Leu)" "" "0000889755" "00019038" "50" "2125" "0" "2125" "0" "c.2125C>T" "r.(?)" "p.(Arg709Cys)" "" "0000913550" "00019038" "50" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Thr57Ala)" "" "0000936010" "00019038" "90" "1274" "0" "1274" "0" "c.1274C>T" "r.(?)" "p.(Thr425Met)" "" "0000936042" "00019038" "70" "1870" "0" "1870" "0" "c.1870G>C" "r.(?)" "p.(Gly624Arg)" "" "0000979512" "00019038" "50" "1735" "0" "1735" "0" "c.1735A>G" "r.(?)" "p.(Met579Val)" "" "0000998945" "00019038" "30" "90" "0" "90" "0" "c.90C>G" "r.(?)" "p.(Cys30Trp)" "" "0000998946" "00019038" "50" "437" "0" "437" "0" "c.437C>A" "r.(?)" "p.(Thr146Asn)" "" "0000998947" "00019038" "50" "2043" "0" "2043" "0" "c.2043G>A" "r.(?)" "p.(Trp681*)" "" "0000998948" "00019038" "30" "2114" "0" "2114" "0" "c.2114A>G" "r.(?)" "p.(Tyr705Cys)" "" "0001014777" "00019038" "50" "2267" "0" "2267" "0" "c.2267C>T" "r.(?)" "p.(Pro756Leu)" "" "0001025954" "00019038" "50" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439Gln)" "" "0001038390" "00019038" "50" "1169" "0" "1169" "0" "c.1169G>T" "r.(?)" "p.(Gly390Val)" "" "0001038391" "00019038" "50" "1169" "0" "1169" "0" "c.1169G>T" "r.(?)" "p.(Gly390Val)" "" "0001038392" "00019038" "50" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439Gln)" "" "0001038393" "00019038" "30" "1738" "-7" "1738" "-7" "c.1738-7G>C" "r.(=)" "p.(=)" "" "0001038394" "00019038" "50" "1970" "0" "1970" "0" "c.1970G>C" "r.(?)" "p.(Gly657Ala)" "" "0001038395" "00019038" "30" "2366" "0" "2366" "0" "c.2366A>G" "r.(?)" "p.(Lys789Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000291506" "0000648195" "0000291507" "0000648196" "0000305428" "0000669116" "0000375698" "0000787049" "0000439881" "0000936010" "0000439881" "0000936042"