### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC6A9) # 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}}" "SLC6A9" "solute carrier family 6 (neurotransmitter transporter, glycine), member 9" "1" "p33" "unknown" "NG_050929.1" "UD_134712010015" "" "https://www.LOVD.nl/SLC6A9" "" "1" "11056" "6536" "601019" "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/SLC6A9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-29 11:06:53" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019042" "SLC6A9" "transcript variant 2" "006" "NM_201649.3" "" "NP_964012.2" "" "" "" "-207" "3183" "2121" "44483012" "44462155" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05841" "glycine encephalopathy" "encephalopathy, glycine, with normal serum glycine" "AR" "617301" "" "" "" "00006" "2020-09-28 12:40:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC6A9" "05841" ## 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}}" "00311052" "" "" "" "1" "" "03788" "" "" "" "yes" "" "" "0" "" "" "" "" "00363894" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00428229" "" "" "" "2" "" "00006" "{PMID:Hauf 2020:32712301}, {PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 2 affected fetuses (F, M), unaffected heterozygous carrier parents" "F" "" "Germany" "<0d" "0" "" "" "" "Fam10PatII1" "00428230" "" "" "00428229" "1" "" "00006" "{PMID:Hauf 2020:32712301}, {PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "fetus 2" "M" "" "Germany" "<0d" "0" "" "" "" "Fam10PatII2" "00428234" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected fetus" "F" "" "Germany" "" "0" "" "" "" "Fam14PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00311052" "05841" "00363894" "00198" "00428229" "00198" "00428230" "00198" "00428234" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05841 ## Count = 5 "{{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}}" "0000237057" "05841" "00311052" "03788" "Familial, autosomal recessive" "" "neonatal onset, respiratory failure, severe hypotonia at birth that progressed to limb hypertonicity, absent neonatal reflexes, startle-like responses provoked by sudden loud sounds and tactile stimulation, severe global developmental delay, dysmorphic features, arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "GLYT1 encephalopathy" "arthrogryposis and severe neurological impairment" "" "0000259232" "00198" "00363894" "01807" "Unknown" "" "Arthrogryposis multiplex congenita (HP:0002804)" "" "" "" "" "" "" "" "" "" "" "" "0000319141" "00198" "00428229" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 21w; reduced fetal movements, polyhydramnios, cystic structures in knees and elbows, increased nuchal translucency; multiple joint contractures, talipes equinovarus (bilateral); autopsy not performed" "" "" "" "" "" "" "" "" "glycine encephalopathy" "fetal akinesia" "" "0000319142" "00198" "00428230" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 18w; reduced fetal movements, polyhydramnios, increased nuchal translucency; contractures shoulders, elbows, wrists, fingers, hips, knees, talipes equinovarus (bilateral); micrognathia and retrognathia, talipes equinovarus (bilateral)" "" "" "" "" "" "" "" "" "glycine encephalopathy" "fetal akinesia" "" "0000319146" "00198" "00428234" "00006" "Familial, autosomal recessive" "" "termination pregnancy 27w; reduced fetal movements, retrognathia; contractures elbows, wrists, crossed fingers, hips, knees, talipes equinovarus (bilateral); retrognathia; signs of congenital myasthenic syndrome" "" "" "" "" "" "" "" "" "glycine encephalopathy" "fetal akinesia" "" ## 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}}" "0000312205" "00311052" "1" "03788" "03788" "2020-09-14 13:31:48" "" "" "arrayCNV;SEQ" "DNA" "Blood" "" "0000365122" "00363894" "1" "01807" "01807" "2021-05-03 09:58:01" "" "" "SEQ" "DNA" "" "" "0000429640" "00428229" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429641" "00428230" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429645" "00428234" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000312205" "SLC6A9" ## 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 = 22 "{{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}}" "0000320780" "0" "50" "1" "44467286" "44467286" "subst" "8.16947E-6" "01804" "SLC6A9_000001" "g.44467286T>G" "" "" "" "SLC6A9(NM_001024845.2):c.976A>C (p.(Ile326Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44001614T>G" "" "VUS" "" "0000320781" "0" "50" "1" "44476405" "44476405" "subst" "0" "01804" "SLC6A9_000002" "g.44476405G>T" "" "" "" "SLC6A9(NM_001024845.2):c.180C>A (p.(Asn60Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44010733G>T" "" "VUS" "" "0000507607" "0" "30" "1" "44466968" "44466968" "subst" "1.2228E-5" "01804" "CCDC24_000001" "g.44466968G>A" "" "" "" "SLC6A9(NM_001024845.2):c.1203C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44001296G>A" "" "likely benign" "" "0000507608" "0" "30" "1" "44467987" "44467987" "subst" "0.00943634" "01804" "CCDC24_000002" "g.44467987G>A" "" "" "" "SLC6A9(NM_001024845.2):c.960C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44002315G>A" "" "likely benign" "" "0000507609" "0" "30" "1" "44468000" "44468000" "subst" "0" "01804" "CCDC24_000003" "g.44468000T>C" "" "" "" "SLC6A9(NM_001024845.2):c.947A>G (p.(His316Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44002328T>C" "" "likely benign" "" "0000687767" "3" "70" "1" "44468264" "44468264" "del" "0" "03788" "SLC6A9_000003" "g.44468264del" "" "" "" "g.28876del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000766079" "3" "70" "1" "44476452" "44476452" "subst" "1.21851E-5" "01807" "SLC6A9_000004" "g.44476452C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000799384" "0" "50" "1" "44466494" "44466494" "subst" "0.000241686" "01943" "CCDC24_000004" "g.44466494G>A" "" "" "" "SLC6A9(NM_201649.3):c.1700C>T (p.P567L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799385" "0" "50" "1" "44467241" "44467241" "subst" "4.06227E-6" "01943" "CCDC24_000005" "g.44467241T>C" "" "" "" "SLC6A9(NM_201649.3):c.1240A>G (p.I414V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857506" "0" "90" "1" "44482767" "44482767" "subst" "0" "01943" "CCDC24_000006" "g.44482767G>A" "" "" "" "SLC6A9(NM_001328627.1):c.76C>T (p.Q26*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909225" "3" "70" "1" "44476452" "44476452" "subst" "1.21851E-5" "00006" "SLC6A9_000004" "g.44476452C>T" "" "{PMID:Hauf 2020:32712301}, {PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.44010780C>T" "" "likely pathogenic (recessive)" "" "0000909226" "3" "70" "1" "44476452" "44476452" "subst" "1.21851E-5" "00006" "SLC6A9_000004" "g.44476452C>T" "" "{PMID:Hauf 2020:32712301}, {PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.44010780C>T" "" "likely pathogenic (recessive)" "" "0000909230" "20" "50" "1" "44477315" "44477315" "subst" "1.21836E-5" "00006" "SLC6A9_000006" "g.44477315G>C" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "mother not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.44011643G>C" "" "VUS" "" "0000909245" "11" "50" "1" "44477237" "44477237" "subst" "0" "00006" "SLC6A9_000005" "g.44477237G>C" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.44011565G>C" "" "VUS" "" "0000973994" "0" "70" "1" "44468544" "44468544" "subst" "0" "02327" "CCDC24_000007" "g.44468544C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991311" "0" "50" "1" "44457553" "44457553" "subst" "0" "01804" "B4GALT2_000003" "g.44457553G>T" "" "" "" "CCDC24(NM_152499.1):c.3G>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991312" "0" "50" "1" "44461665" "44461665" "subst" "3.25016E-5" "01804" "B4GALT2_000004" "g.44461665G>A" "" "" "" "CCDC24(NM_152499.1):c.757G>A (p.(Gly253Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991313" "0" "50" "1" "44474080" "44474080" "subst" "5.28266E-5" "01804" "CCDC24_000008" "g.44474080A>G" "" "" "" "SLC6A9(NM_001024845.2):c.535T>C (p.(Ser179Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032080" "0" "50" "1" "44466729" "44466729" "subst" "0" "01804" "CCDC24_000009" "g.44466729T>A" "" "" "" "SLC6A9(NM_001024845.3):c.1336-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032081" "0" "50" "1" "44466880" "44466880" "subst" "2.44812E-5" "01804" "CCDC24_000010" "g.44466880C>T" "" "" "" "SLC6A9(NM_001024845.3):c.1291G>A (p.(Val431Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032082" "0" "50" "1" "44475722" "44475722" "subst" "0" "01804" "CCDC24_000011" "g.44475722G>C" "" "" "" "SLC6A9(NM_001024845.3):c.234C>G (p.(Ile78Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050096" "0" "50" "1" "44468081" "44468081" "subst" "1.21877E-5" "01804" "CCDC24_000012" "g.44468081C>A" "" "" "" "SLC6A9(NM_001024845.3):c.866G>T (p.(Gly289Val))" "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 SLC6A9 ## Count = 22 "{{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}}" "0000320780" "00019042" "50" "1195" "0" "1195" "0" "c.1195A>C" "r.(?)" "p.(Ile399Leu)" "" "0000320781" "00019042" "50" "399" "0" "399" "0" "c.399C>A" "r.(?)" "p.(Asn133Lys)" "" "0000507607" "00019042" "30" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Phe474=)" "" "0000507608" "00019042" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Tyr393=)" "" "0000507609" "00019042" "30" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0000687767" "00019042" "70" "997" "0" "997" "0" "c.997del" "r.(?)" "p.(Arg333Alafs*3)" "7" "0000766079" "00019042" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000799384" "00019042" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Pro567Leu)" "" "0000799385" "00019042" "50" "1240" "0" "1240" "0" "c.1240A>G" "r.(?)" "p.(Ile414Val)" "" "0000857506" "00019042" "90" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Pro13=)" "" "0000909225" "00019042" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000909226" "00019042" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000909230" "00019042" "50" "167" "0" "167" "0" "c.167C>G" "r.(?)" "p.(Ser56Cys)" "" "0000909245" "00019042" "50" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Ala82Gly)" "" "0000973994" "00019042" "70" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "0000991311" "00019042" "50" "7785" "0" "7785" "0" "c.*5664C>A" "r.(=)" "p.(=)" "" "0000991312" "00019042" "50" "3673" "0" "3673" "0" "c.*1552C>T" "r.(=)" "p.(=)" "" "0000991313" "00019042" "50" "754" "0" "754" "0" "c.754T>C" "r.(?)" "p.(Ser252Pro)" "" "0001032080" "00019042" "50" "1555" "-2" "1555" "-2" "c.1555-2A>T" "r.spl?" "p.?" "" "0001032081" "00019042" "50" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Val504Met)" "" "0001032082" "00019042" "50" "453" "0" "453" "0" "c.453C>G" "r.(?)" "p.(Ile151Met)" "" "0001050096" "00019042" "50" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000312205" "0000687767" "0000365122" "0000766079" "0000429640" "0000909225" "0000429641" "0000909226" "0000429645" "0000909230" "0000429645" "0000909245"