### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOS2) # 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}}" "NOS2" "nitric oxide synthase 2, inducible" "17" "q11.2-q12" "unknown" "NG_011470.1" "UD_132118641631" "" "https://www.LOVD.nl/NOS2" "Globin Gene Server databases \r\nHbVar " "1" "7873" "4843" "163730" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NOS2_codingDNA.html" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2010-06-23 00:00:00" "00006" "2019-11-01 10:46:49" "00000" "2025-05-16 14:38:03" ## 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}}" "00014694" "NOS2" "nitric oxide synthase 2, inducible" "001" "NM_000625.4" "" "NP_000616.3" "" "" "" "-264" "3942" "3462" "26127555" "26083792" "" "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}}" "00104" "EHT" "hypertension, essential, susceptibility to (EHT)" "Mu" "145500" "" "" "" "00001" "2013-01-20 16:12:35" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00309" "MLRS" "malaria, susceptibility to" "" "611162" "" "" "" "00006" "2014-01-24 11:34:13" "00006" "2021-12-14 08:45:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NOS2" "00104" "NOS2" "00309" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00267112" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267113" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00267112" "00198" "00267113" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00104, 00198, 00309 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000268241" "00267112" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268242" "00267113" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000268241" "NOS2" "0000268242" "NOS2" ## 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 = 21 "{{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}}" "0000560702" "0" "30" "17" "26084309" "26084309" "subst" "5.69152E-5" "01943" "NOS2_000003" "g.26084309G>A" "" "" "" "NOS2(NM_000625.4):c.3425C>T (p.A1142V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27757283G>A" "" "likely benign" "" "0000560703" "0" "30" "17" "26107900" "26107900" "subst" "3.66438E-5" "01943" "NOS2_000004" "g.26107900G>A" "" "" "" "NOS2(NM_000625.4):c.897C>T (p.Y299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27780874G>A" "" "likely benign" "" "0000600918" "0" "50" "17" "26109571" "26109571" "subst" "0" "03464" "NOS2_000002" "g.26109571C>T" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs944725" "0" "" "" "g.27782545C>T" "" "VUS" "" "0000600919" "0" "50" "17" "26105932" "26105932" "subst" "0.204794" "03464" "NOS2_000001" "g.26105932G>A" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs1137933" "0" "" "" "g.27778906G>A" "" "VUS" "" "0000854786" "0" "30" "17" "26096590" "26096590" "subst" "0" "01943" "NOS2_000006" "g.26096590G>A" "" "" "" "NOS2(NM_000625.4):c.1830C>T (p.F610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865117" "0" "30" "17" "26084286" "26084286" "subst" "8.13438E-6" "01943" "NOS2_000005" "g.26084286T>C" "" "" "" "NOS2(NM_000625.4):c.3448A>G (p.M1150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893397" "0" "30" "17" "26084279" "26084279" "subst" "2.03558E-5" "02326" "NOS2_000007" "g.26084279G>A" "" "" "" "NOS2(NM_000625.4):c.3455C>T (p.A1152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893398" "0" "30" "17" "26107840" "26107840" "subst" "0.000877207" "02326" "NOS2_000008" "g.26107840G>A" "" "" "" "NOS2(NM_000625.4):c.957C>T (p.F319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893399" "0" "50" "17" "26107923" "26107923" "subst" "0.000438438" "02325" "NOS2_000009" "g.26107923C>T" "" "" "" "NOS2(NM_000625.4):c.874G>A (p.D292N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893400" "0" "30" "17" "26108214" "26108214" "subst" "0" "02326" "NOS2_000010" "g.26108214C>T" "" "" "" "NOS2(NM_000625.4):c.723-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893401" "0" "30" "17" "26115856" "26115856" "subst" "0.00263199" "02326" "NOS2_000011" "g.26115856T>A" "" "" "" "NOS2(NM_000625.4):c.297A>T (p.T99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893402" "0" "30" "17" "26116645" "26116645" "subst" "0.000284379" "02326" "NOS2_000012" "g.26116645G>A" "" "" "" "NOS2(NM_000625.4):c.180C>T (p.L60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926410" "0" "30" "17" "26087654" "26087654" "subst" "0" "02326" "NOS2_000013" "g.26087654T>C" "" "" "" "NOS2(NM_000625.4):c.3005A>G (p.H1002R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926411" "0" "10" "17" "26093543" "26093543" "subst" "0.00136028" "02326" "NOS2_000014" "g.26093543T>C" "" "" "" "NOS2(NM_000625.4):c.2239A>G (p.T747A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926412" "0" "50" "17" "26094751" "26094751" "subst" "5.29816E-5" "02325" "NOS2_000015" "g.26094751T>A" "" "" "" "NOS2(NM_000625.4):c.2147A>T (p.Q716L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926413" "0" "50" "17" "26099450" "26099450" "subst" "8.93684E-5" "02325" "NOS2_000016" "g.26099450G>C" "" "" "" "NOS2(NM_000625.4):c.1588C>G (p.R530G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926414" "0" "30" "17" "26106007" "26106007" "subst" "0.000608307" "02325" "NOS2_000017" "g.26106007G>A" "" "" "" "NOS2(NM_000625.4):c.1080C>T (p.G360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926415" "0" "50" "17" "26116653" "26116653" "subst" "0" "02326" "NOS2_000018" "g.26116653G>A" "" "" "" "NOS2(NM_000625.4):c.172C>T (p.Q58*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982374" "0" "50" "17" "26110055" "26110055" "subst" "0.000158363" "01804" "NOS2_000019" "g.26110055G>A" "" "" "" "NOS2(NM_000625.4):c.545C>T (p.(Thr182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003045" "0" "50" "17" "26087208" "26087210" "del" "0" "02325" "NOS2_000020" "g.26087208_26087210del" "" "" "" "NOS2(NM_000625.4):c.3011-5_3011-3delTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044744" "0" "50" "17" "26096597" "26096597" "subst" "0" "03779" "NOS2_000021" "g.26096597G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 NOS2 ## Count = 21 "{{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}}" "0000560702" "00014694" "30" "3425" "0" "3425" "0" "c.3425C>T" "r.(?)" "p.(Ala1142Val)" "" "0000560703" "00014694" "30" "897" "0" "897" "0" "c.897C>T" "r.(?)" "p.(Tyr299=)" "" "0000600918" "00014694" "50" "630" "399" "630" "399" "c.630+399G>A" "r.(=)" "p.(=)" "" "0000600919" "00014694" "50" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(=)" "" "0000854786" "00014694" "30" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Phe610=)" "" "0000865117" "00014694" "30" "3448" "0" "3448" "0" "c.3448A>G" "r.(?)" "p.(Met1150Val)" "" "0000893397" "00014694" "30" "3455" "0" "3455" "0" "c.3455C>T" "r.(?)" "p.(Ala1152Val)" "" "0000893398" "00014694" "30" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Phe319=)" "" "0000893399" "00014694" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Asp292Asn)" "" "0000893400" "00014694" "30" "723" "-11" "723" "-11" "c.723-11G>A" "r.(=)" "p.(=)" "" "0000893401" "00014694" "30" "297" "0" "297" "0" "c.297A>T" "r.(?)" "p.(Thr99=)" "" "0000893402" "00014694" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Leu60=)" "" "0000926410" "00014694" "30" "3005" "0" "3005" "0" "c.3005A>G" "r.(?)" "p.(His1002Arg)" "" "0000926411" "00014694" "10" "2239" "0" "2239" "0" "c.2239A>G" "r.(?)" "p.(Thr747Ala)" "" "0000926412" "00014694" "50" "2147" "0" "2147" "0" "c.2147A>T" "r.(?)" "p.(Gln716Leu)" "" "0000926413" "00014694" "50" "1588" "0" "1588" "0" "c.1588C>G" "r.(?)" "p.(Arg530Gly)" "" "0000926414" "00014694" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Gly360=)" "" "0000926415" "00014694" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58*)" "" "0000982374" "00014694" "50" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Met)" "" "0001003045" "00014694" "50" "3011" "-5" "3011" "-3" "c.3011-5_3011-3del" "r.spl?" "p.?" "" "0001044744" "00014694" "50" "1823" "0" "1823" "0" "c.1823C>G" "r.(?)" "p.(Ser608Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000268241" "0000600918" "0000268242" "0000600919"