### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AVP) # 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}}" "AVP" "arginine vasopressin" "20" "p13" "unknown" "LRG_715" "UD_132118369452" "" "https://www.LOVD.nl/AVP" "" "1" "894" "551" "192340" "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/AVP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "03399" "2019-09-04 20:28:51" "00000" "2026-01-20 18:57:21" ## 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}}" "00003184" "AVP" "arginine vasopressin" "001" "NM_000490.4" "" "NP_000481.2" "" "" "" "-50" "569" "495" "3065370" "3063202" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01283" "-" "diabetes insipidus, neurohypophyseal" "AD" "125700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AVP" "01283" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01283 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 33 "{{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}}" "0000252468" "0" "90" "20" "3063425" "3063425" "subst" "0" "02326" "AVP_000001" "g.3063425A>C" "" "" "" "AVP(NM_000490.4):c.346T>G (p.C116G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3082779A>C" "" "pathogenic" "" "0000261344" "0" "90" "20" "3063685" "3063685" "subst" "0" "02326" "AVP_000002" "g.3063685G>T" "" "" "" "AVP(NM_000490.4):c.260C>A (p.S87Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083039G>T" "" "pathogenic" "" "0000337667" "0" "30" "20" "3065358" "3065358" "subst" "0" "02327" "AVP_000018" "g.3065358T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3084712T>A" "" "likely benign" "" "0000341255" "0" "90" "20" "3065266" "3065266" "subst" "0" "02327" "AVP_000017" "g.3065266C>T" "" "" "" "AVP(NM_000490.4):c.55G>A (p.A19T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3084620C>T" "" "pathogenic" "" "0000344245" "0" "90" "20" "3063425" "3063425" "subst" "0" "02327" "AVP_000003" "g.3063425A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3082779A>G" "" "pathogenic" "" "0000344416" "0" "90" "20" "3063789" "3063789" "subst" "0" "02327" "AVP_000013" "g.3063789G>C" "" "" "" "AVP(NM_000490.4):c.156C>G (p.C52W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083143G>C" "" "pathogenic" "" "0000344473" "0" "90" "20" "3063671" "3063671" "subst" "0" "02327" "AVP_000008" "g.3063671A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083025A>G" "" "pathogenic" "" "0000344474" "0" "70" "20" "3063670" "3063670" "subst" "0" "02327" "AVP_000007" "g.3063670C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083024C>T" "" "likely pathogenic" "" "0000345049" "0" "90" "20" "3063623" "3063623" "subst" "0" "02327" "AVP_000006" "g.3063623C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3082977C>A" "" "pathogenic" "" "0000345053" "0" "50" "20" "3063447" "3063447" "subst" "0" "02327" "AVP_000004" "g.3063447C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3082801C>G" "" "VUS" "" "0000345549" "0" "90" "20" "3063716" "3063718" "del" "0" "02327" "AVP_000009" "g.3063716_3063718del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083070_3083072del" "" "pathogenic" "" "0000345550" "0" "90" "20" "3063713" "3063713" "subst" "0" "02327" "AVP_000010" "g.3063713C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083067C>T" "" "pathogenic" "" "0000346114" "0" "70" "20" "3063802" "3063802" "subst" "0" "02327" "AVP_000014" "g.3063802C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083156C>A" "" "likely pathogenic" "" "0000348067" "0" "50" "20" "3063787" "3063787" "subst" "0" "02327" "AVP_000012" "g.3063787A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083141A>C" "" "VUS" "" "0000348505" "0" "90" "20" "3063781" "3063781" "subst" "0" "02327" "AVP_000011" "g.3063781G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3083135G>A" "" "pathogenic" "" "0000349986" "0" "70" "20" "3065260" "3065260" "subst" "0" "02327" "AVP_000015" "g.3065260A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3084614A>G" "" "likely pathogenic" "" "0000569319" "0" "50" "20" "3063389" "3063389" "subst" "0" "02327" "AVP_000019" "g.3063389C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3082743C>T" "" "VUS" "" "0000569320" "0" "30" "20" "3063406" "3063406" "subst" "0.000991782" "02327" "AVP_000020" "g.3063406C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3082760C>T" "" "likely benign" "" "0000569321" "0" "90" "20" "3063669" "3063669" "subst" "0" "02327" "AVP_000021" "g.3063669G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3083023G>T" "" "pathogenic" "" "0000569322" "0" "50" "20" "3063797" "3063797" "subst" "0" "02327" "AVP_000022" "g.3063797C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3083151C>T" "" "VUS" "" "0000569323" "0" "90" "20" "3065266" "3065266" "subst" "0" "02326" "AVP_000017" "g.3065266C>T" "" "" "" "AVP(NM_000490.4):c.55G>A (p.A19T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3084620C>T" "" "pathogenic" "" "0000618030" "0" "70" "20" "3063685" "3063685" "subst" "0" "02327" "AVP_000002" "g.3063685G>T" "" "" "" "AVP(NM_000490.4):c.260C>A (p.S87Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3083039G>T" "" "likely pathogenic" "" "0000618031" "0" "70" "20" "3065320" "3065320" "subst" "0" "02327" "AVP_000023" "g.3065320T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3084674T>C" "" "likely pathogenic" "" "0000658739" "0" "70" "20" "3063669" "3063669" "subst" "0" "02327" "AVP_000024" "g.3063669G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3083023G>C" "" "likely pathogenic" "" "0000727637" "0" "90" "20" "3063425" "3063425" "subst" "0" "02327" "AVP_000001" "g.3063425A>C" "" "" "" "AVP(NM_000490.4):c.346T>G (p.C116G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855787" "0" "70" "20" "3063769" "3063769" "subst" "0" "02327" "AVP_000025" "g.3063769C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895254" "0" "70" "20" "3063683" "3063683" "subst" "0" "02327" "AVP_000026" "g.3063683C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915353" "0" "50" "20" "3063331" "3063372" "dup" "0" "02326" "AVP_000027" "g.3063331_3063372dup" "" "" "" "AVP(NM_000490.4):c.407_448dup (p.D136_L149dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951415" "0" "70" "20" "3063789" "3063789" "subst" "0" "02326" "AVP_000013" "g.3063789G>C" "" "" "" "AVP(NM_000490.4):c.156C>G (p.C52W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005313" "0" "50" "20" "3065214" "3065214" "subst" "0" "01804" "AVP_000028" "g.3065214A>G" "" "" "" "AVP(NM_000490.4):c.107T>C (p.(Leu36Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030940" "0" "70" "20" "3063775" "3063775" "subst" "0" "03779" "AVP_000029" "g.3063775A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001056832" "0" "50" "20" "3065203" "3065203" "subst" "4.06461E-6" "01804" "AVP_000030" "g.3065203G>C" "" "" "" "AVP(NM_000490.5):c.118C>G (p.(Gln40Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067281" "0" "90" "20" "3063785" "3063785" "subst" "0" "02327" "AVP_000031" "g.3063785C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 AVP ## Count = 33 "{{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}}" "0000252468" "00003184" "90" "346" "0" "346" "0" "c.346T>G" "r.(?)" "p.(Cys116Gly)" "" "0000261344" "00003184" "90" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Ser87Tyr)" "" "0000337667" "00003184" "30" "-38" "0" "-38" "0" "c.-38A>T" "r.(?)" "p.(=)" "" "0000341255" "00003184" "90" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Ala19Thr)" "" "0000344245" "00003184" "90" "346" "0" "346" "0" "c.346T>C" "r.(?)" "p.(Cys116Arg)" "" "0000344416" "00003184" "90" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Cys52Trp)" "" "0000344473" "00003184" "90" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Cys92Arg)" "" "0000344474" "00003184" "70" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Cys92Tyr)" "" "0000345049" "00003184" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108Ter)" "" "0000345053" "00003184" "50" "324" "0" "324" "0" "c.324G>C" "r.(?)" "p.(Glu108Asp)" "" "0000345549" "00003184" "90" "232" "0" "234" "0" "c.232_234del" "r.(?)" "p.(Glu78del)" "" "0000345550" "00003184" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" "0000346114" "00003184" "70" "143" "0" "143" "0" "c.143G>T" "r.(?)" "p.(Gly48Val)" "" "0000348067" "00003184" "50" "158" "0" "158" "0" "c.158T>G" "r.(?)" "p.(Phe53Cys)" "" "0000348505" "00003184" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "" "0000349986" "00003184" "70" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Tyr21His)" "" "0000569319" "00003184" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000569320" "00003184" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000569321" "00003184" "90" "276" "0" "276" "0" "c.276C>A" "r.(?)" "p.(Cys92Ter)" "" "0000569322" "00003184" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Ser)" "" "0000569323" "00003184" "90" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Ala19Thr)" "" "0000618030" "00003184" "70" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Ser87Tyr)" "" "0000618031" "00003184" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000658739" "00003184" "70" "276" "0" "276" "0" "c.276C>G" "r.(?)" "p.(Cys92Trp)" "" "0000727637" "00003184" "90" "346" "0" "346" "0" "c.346T>G" "r.(?)" "p.(Cys116Gly)" "" "0000855787" "00003184" "70" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000895254" "00003184" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Ser)" "" "0000915353" "00003184" "50" "407" "0" "448" "0" "c.407_448dup" "r.(?)" "p.(Asp136_Leu149dup)" "" "0000951415" "00003184" "70" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Cys52Trp)" "" "0001005313" "00003184" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "" "0001030940" "00003184" "70" "170" "0" "170" "0" "c.170T>A" "r.(?)" "p.(Ile57Asn)" "" "0001056832" "00003184" "50" "118" "0" "118" "0" "c.118C>G" "r.(?)" "p.(Gln40Glu)" "" "0001067281" "00003184" "90" "160" "0" "160" "0" "c.160G>C" "r.(?)" "p.(Gly54Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0