### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUP205) # 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}}" "NUP205" "nucleoporin 205kDa" "7" "q31.32" "unknown" "NG_051184.1" "UD_132612589198" "" "https://www.LOVD.nl/NUP205" "" "1" "18658" "23165" "614352" "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/NUP205_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-29 10:35:21" "00000" "2025-02-07 18:57:27" ## 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}}" "00014943" "NUP205" "nucleoporin 205kDa" "001" "NM_015135.2" "" "NP_055950.1" "" "" "" "-31" "6236" "6039" "135242662" "135333501" "" "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" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "05448" "NPHS13" "nephrotic syndrome, type 13 (NPHS-13)" "" "616893" "" "autosomal recessive?" "" "00006" "2018-06-29 10:32:00" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NUP205" "00399" "NUP205" "05448" ## 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}}" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00165183" "" "" "" "2" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "26878725-FamA1733Pat21/22" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00165183" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 05448 ## 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}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000130059" "00399" "00165183" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NPHS-13" "nephrotic syndrome" "" ## 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}}" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000166059" "00165183" "1" "00006" "00006" "2018-06-29 10:33:39" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000166059" "NUP205" ## 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 = 25 "{{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}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000369926" "3" "90" "7" "135333249" "135333249" "subst" "8.42893E-6" "00006" "NUP205_000001" "g.135333249T>C" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135648501T>C" "" "pathogenic" "" "0000530939" "0" "10" "7" "135333173" "135333173" "subst" "0.000474825" "02326" "NUP205_000002" "g.135333173G>A" "" "" "" "NUP205(NM_001329434.2):c.4834G>A (p.A1612T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135648425G>A" "" "benign" "" "0000689926" "0" "50" "7" "135300727" "135300727" "subst" "4.06349E-6" "02325" "NUP205_000003" "g.135300727G>A" "" "" "" "NUP205(NM_015135.3):c.3374G>A (p.R1125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689927" "0" "30" "7" "135307619" "135307619" "subst" "0.00329327" "02326" "NUP205_000004" "g.135307619C>T" "" "" "" "NUP205(NM_001329434.2):c.3351C>T (p.A1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689928" "0" "50" "7" "135315087" "135315087" "subst" "0.000288423" "02325" "NUP205_000005" "g.135315087C>G" "" "" "" "NUP205(NM_015135.3):c.4933-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721294" "0" "30" "7" "135261834" "135261834" "subst" "0.0030827" "02326" "NUP205_000006" "g.135261834A>G" "" "" "" "NUP205(NM_015135.2):c.606A>G (p.L202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802946" "0" "10" "7" "135285707" "135285707" "subst" "0.00272401" "02326" "NUP205_000007" "g.135285707G>A" "" "" "" "NUP205(NM_015135.2):c.2364G>A (p.V788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802947" "0" "30" "7" "135303243" "135303243" "subst" "0.000231598" "02326" "NUP205_000008" "g.135303243G>A" "" "" "" "NUP205(NM_015135.2):c.3855G>A (p.S1285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802948" "0" "30" "7" "135323351" "135323351" "subst" "0.00225386" "02326" "NUP205_000009" "g.135323351G>T" "" "" "" "NUP205(NM_015135.2):c.5312G>T (p.S1771I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851472" "0" "10" "7" "135272328" "135272328" "subst" "0.0027551" "02326" "NUP205_000010" "g.135272328A>G" "" "" "" "NUP205(NM_015135.2):c.1224A>G (p.K408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851473" "0" "30" "7" "135276239" "135276239" "subst" "0.00131683" "02326" "NUP205_000011" "g.135276239G>A" "" "" "" "NUP205(NM_015135.2):c.1515G>A (p.L505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851474" "0" "30" "7" "135300783" "135300783" "subst" "0.00300948" "02326" "NUP205_000012" "g.135300783C>G" "" "" "" "NUP205(NM_015135.2):c.3430C>G (p.L1144V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887679" "0" "30" "7" "135262684" "135262684" "subst" "0.00277498" "02326" "NUP205_000013" "g.135262684A>G" "" "" "" "NUP205(NM_015135.2):c.789A>G (p.S263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887680" "0" "30" "7" "135272307" "135272307" "subst" "0.0032801" "02326" "NUP205_000014" "g.135272307C>G" "" "" "" "NUP205(NM_015135.2):c.1219-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887681" "0" "70" "7" "135285617" "135285617" "subst" "0" "02326" "NUP205_000015" "g.135285617G>T" "" "" "" "NUP205(NM_015135.2):c.2275-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887682" "0" "30" "7" "135286179" "135286179" "subst" "0.000524343" "02326" "NUP205_000016" "g.135286179G>A" "" "" "" "NUP205(NM_015135.2):c.2436G>A (p.E812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887683" "0" "30" "7" "135304527" "135304527" "subst" "0.00283243" "02326" "NUP205_000017" "g.135304527A>C" "" "" "" "NUP205(NM_015135.2):c.4232-11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887684" "0" "30" "7" "135304646" "135304646" "subst" "0.000864526" "02326" "NUP205_000018" "g.135304646G>A" "" "" "" "NUP205(NM_015135.2):c.4330+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887685" "0" "30" "7" "135320312" "135320312" "subst" "4.29343E-5" "02326" "NUP205_000019" "g.135320312C>T" "" "" "" "NUP205(NM_015135.2):c.5060-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912668" "0" "30" "7" "135269638" "135269638" "subst" "0.00299177" "02326" "NUP205_000020" "g.135269638C>T" "" "" "" "NUP205(NM_015135.2):c.1101C>T (p.N367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912669" "0" "30" "7" "135276332" "135276332" "subst" "0.000405303" "02326" "NUP205_000021" "g.135276332C>T" "" "" "" "NUP205(NM_015135.2):c.1608C>T (p.V536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912670" "0" "10" "7" "135277928" "135277928" "subst" "0.00310938" "02326" "NUP205_000022" "g.135277928C>T" "" "" "" "NUP205(NM_015135.2):c.1818C>T (p.T606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929299" "0" "30" "7" "135289094" "135289094" "subst" "0.000262721" "02326" "NUP205_000023" "g.135289094A>G" "" "" "" "NUP205(NM_015135.2):c.2709A>G (p.L903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025350" "0" "30" "7" "135261167" "135261167" "subst" "0.000921924" "02326" "NUP205_000024" "g.135261167T>C" "" "" "" "NUP205(NM_015135.2):c.488+5T>C" "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 NUP205 ## Count = 25 "{{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}}" "0000079506" "00014943" "00" "-8388608" "0" "246694" "0" "c.-14242629_*240655del" "r.0?" "p.0?" "" "0000369926" "00014943" "90" "5984" "0" "5984" "0" "c.5984T>C" "r.(?)" "p.(Phe1995Ser)" "43" "0000530939" "00014943" "10" "5908" "0" "5908" "0" "c.5908G>A" "r.(?)" "p.(Ala1970Thr)" "" "0000689926" "00014943" "50" "3374" "0" "3374" "0" "c.3374G>A" "r.(?)" "p.(Arg1125Lys)" "" "0000689927" "00014943" "30" "4425" "0" "4425" "0" "c.4425C>T" "r.(?)" "p.(Ala1475=)" "" "0000689928" "00014943" "50" "4933" "-5" "4933" "-5" "c.4933-5C>G" "r.spl?" "p.?" "" "0000721294" "00014943" "30" "606" "0" "606" "0" "c.606A>G" "r.(?)" "p.(Leu202=)" "" "0000802946" "00014943" "10" "2364" "0" "2364" "0" "c.2364G>A" "r.(?)" "p.(Val788=)" "" "0000802947" "00014943" "30" "3855" "0" "3855" "0" "c.3855G>A" "r.(?)" "p.(Ser1285=)" "" "0000802948" "00014943" "30" "5312" "0" "5312" "0" "c.5312G>T" "r.(?)" "p.(Ser1771Ile)" "" "0000851472" "00014943" "10" "1224" "0" "1224" "0" "c.1224A>G" "r.(?)" "p.(Lys408=)" "" "0000851473" "00014943" "30" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Leu505=)" "" "0000851474" "00014943" "30" "3430" "0" "3430" "0" "c.3430C>G" "r.(?)" "p.(Leu1144Val)" "" "0000887679" "00014943" "30" "789" "0" "789" "0" "c.789A>G" "r.(?)" "p.(Ser263=)" "" "0000887680" "00014943" "30" "1219" "-16" "1219" "-16" "c.1219-16C>G" "r.(=)" "p.(=)" "" "0000887681" "00014943" "70" "2275" "-1" "2275" "-1" "c.2275-1G>T" "r.spl?" "p.?" "" "0000887682" "00014943" "30" "2436" "0" "2436" "0" "c.2436G>A" "r.(?)" "p.(Glu812=)" "" "0000887683" "00014943" "30" "4232" "-11" "4232" "-11" "c.4232-11A>C" "r.(=)" "p.(=)" "" "0000887684" "00014943" "30" "4330" "10" "4330" "10" "c.4330+10G>A" "r.(=)" "p.(=)" "" "0000887685" "00014943" "30" "5060" "-17" "5060" "-17" "c.5060-17C>T" "r.(=)" "p.(=)" "" "0000912668" "00014943" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Asn367=)" "" "0000912669" "00014943" "30" "1608" "0" "1608" "0" "c.1608C>T" "r.(?)" "p.(Val536=)" "" "0000912670" "00014943" "10" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Thr606=)" "" "0000929299" "00014943" "30" "2709" "0" "2709" "0" "c.2709A>G" "r.(?)" "p.(=)" "" "0001025350" "00014943" "30" "488" "5" "488" "5" "c.488+5T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050526" "0000079506" "0000166059" "0000369926"