### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUP214) # 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}}" "NUP214" "nucleoporin 214kDa" "9" "q34" "unknown" "NG_023371.1" "UD_132118968743" "" "https://www.LOVD.nl/NUP214" "" "1" "8064" "8021" "114350" "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/NUP214_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-19 13:20:34" "00006" "2025-06-11 21:36:12" ## 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}}" "00025413" "NUP214" "nucleoporin 214kDa" "001" "NM_005085.3" "" "NP_005076.3" "" "" "" "-144" "7456" "6273" "134000948" "134110057" "00006" "2019-06-19 13:21:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00211" "ENC" "encephalopathy (ENC)" "" "" "" "" "" "00006" "2013-09-24 21:07:28" "00006" "2015-12-07 07:11:25" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "03237" "ALL" "leukemia, lymphoid, acute (ALL)" "" "613065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "06830" "IIAE9" "{Encephalopathy, acute, infection-induced, susceptibility to, 9}" "AR" "618426" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NUP214" "00908" "NUP214" "03237" "NUP214" "06830" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00016306" "" "" "" "2" "" "00677" "" "family, 2 affected brothers" "M" "yes" "Palestine" "" "0" "" "" "Palestinian" "" "00240389" "" "" "" "2" "" "00006" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "3-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Palestine" "" "0" "" "" "" "FamAPatIII3" "00240390" "" "" "00240389" "1" "" "00006" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "PatIII12" "F" "yes" "Palestine" "" "0" "" "" "" "FamAPatIII12" "00240391" "" "" "" "2" "" "00006" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "Europe, north (non-Finland)" "FamBPatII1" "00240392" "" "" "00240391" "1" "" "00006" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "sister PatII2" "F" "no" "" "" "0" "" "" "Europe, north (non-Finland)" "FamBPatII2" "00314877" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio44" "00465864" "" "" "" "3" "" "00006" "{PMID:Iqbal 2015:25704603}" "2-generation family, 3 affected, unaffected parents" "F" "" "Netherlands" "" "0" "" "" "" "FamW10-3099" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00016306" "00139" "00240389" "00211" "00240390" "00211" "00240391" "00211" "00240392" "00211" "00314877" "00198" "00465864" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00211, 00908, 03237, 06830 ## Count = 7 "{{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}}" "0000014898" "00139" "00016306" "00677" "Familial, autosomal recessive" "" "cranio-lenticulo-sutural dysplasia (CLSD) and congenital disorders of glycosylation (CDG)-II" "" "" "" "" "" "" "" "" "" "" "" "0000180454" "00211" "00240389" "00006" "Familial, autosomal recessive" "11y" "developmental delay; developmental regression; febrile-induced regression 21m; epilepsy; progressive microcephaly; no hypotonia; appendicular spasticity; ataxia; no myoclonic jerks; cerebellar atrophy; basal ganglia involvement; hyponatremia upon acute presentation" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000180455" "00211" "00240390" "00006" "Familial, autosomal recessive" "7m15d" "developmental delay; developmental regression; febrile-induced regression 5m15d; no epilepsy; progressive microcephaly; hypotonia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000180456" "00211" "00240391" "00006" "Familial, autosomal recessive" "6y7m" "developmental delay; developmental regression; febrile-induced regression 15m; epilepsy; progressive microcephaly; hypotonia; ataxia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000180457" "00211" "00240392" "00006" "Familial, autosomal recessive" "3y3m" "developmental delay; developmental regression; febrile-induced regression 30m; epilepsy; progressive microcephaly; hypotonia; ataxia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000238635" "00198" "00314877" "00006" "Unknown" "10y" "Peter’s anomaly bilaterally with microphthalmia, more on the right than the left, bilateral choanal atresia, communicating hydrocephalus, bilateral hearing loss requiring cochlear implants and acute lymphoblastic leukemia that has been in remission." "1d" "" "" "" "" "" "" "" "" "" "" "0000351313" "00139" "00465864" "00006" "Familial, autosomal recessive" "" "dsee paper; ..., moderate-severe intellectual disability; neonatal period cried excessively; psychomotor development delayed; progressive tremor; small hand length" "" "" "" "" "" "" "" "" "MRT48" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016225" "00016306" "1" "00677" "00677" "2014-03-05 21:07:15" "00006" "2014-03-06 22:33:14" "SEQ-NG" "DNA" "Skin Fibroblasts" "" "0000241499" "00240389" "1" "00006" "00006" "2019-06-19 15:18:02" "" "" "SEQ-NG" "DNA" "" "WES" "0000241500" "00240390" "1" "00006" "00006" "2019-06-19 15:18:02" "" "" "SEQ-NG" "DNA" "" "WES" "0000241501" "00240391" "1" "00006" "00006" "2019-06-19 15:18:02" "" "" "SEQ-NG" "DNA" "" "WES" "0000241502" "00240392" "1" "00006" "00006" "2019-06-19 15:18:02" "" "" "SEQ-NG" "DNA" "" "WES" "0000316051" "00314877" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000467515" "00465864" "1" "00006" "00006" "2025-06-10 16:23:04" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000016225" "MUM1L1" "0000016225" "NUP214" "0000016225" "SASH3" "0000241499" "NUP214" "0000241500" "NUP214" "0000241501" "NUP214" "0000241502" "NUP214" "0000316051" "NUP214" ## 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 = 43 "{{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}}" "0000035962" "3" "50" "9" "134038538" "134038538" "subst" "0" "00677" "NUP214_000001" "g.134038538C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131163151C>T" "" "VUS" "" "0000248614" "0" "10" "9" "134021630" "134021630" "subst" "0.326421" "02325" "NUP214_000004" "g.134021630A>G" "" "" "" "NUP214(NM_005085.4):c.1884A>G (p.T628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131146243A>G" "" "benign" "" "0000296649" "0" "10" "9" "134020092" "134020092" "subst" "0.670554" "02325" "NUP214_000003" "g.134020092C>T" "" "" "" "NUP214(NM_005085.4):c.1720C>T (p.P574S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131144705C>T" "" "benign" "" "0000304672" "0" "50" "9" "134004721" "134004721" "subst" "4.06062E-6" "01943" "NUP214_000002" "g.134004721G>A" "" "" "" "NUP214(NM_005085.3):c.449G>A (p.G150D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131129334G>A" "" "VUS" "" "0000304673" "0" "30" "9" "134074203" "134074203" "subst" "2.0311E-5" "01943" "NUP214_000005" "g.134074203C>T" "" "" "" "NUP214(NM_005085.3):c.5322C>T (p.A1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131198816C>T" "" "likely benign" "" "0000487495" "3" "90" "9" "134002977" "134002977" "subst" "6.90406E-5" "00006" "NUP214_000006" "g.134002977C>T" "" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "" "" "ACMG PP3, PP1" "Germline" "yes" "" "0" "" "" "g.131127590C>T" "" "pathogenic (recessive)" "ACMG" "0000487496" "3" "90" "9" "134002977" "134002977" "subst" "6.90406E-5" "00006" "NUP214_000006" "g.134002977C>T" "" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131127590C>T" "" "pathogenic (recessive)" "" "0000487497" "21" "90" "9" "134015962" "134015962" "subst" "4.08911E-6" "00006" "NUP214_000007" "g.134015962C>T" "" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "" "" "ACMG PP3, PP1" "Germline" "yes" "" "0" "" "" "g.131140575C>T" "" "pathogenic (recessive)" "ACMG" "0000487498" "21" "90" "9" "134015962" "134015962" "subst" "4.08911E-6" "00006" "NUP214_000007" "g.134015962C>T" "" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131140575C>T" "" "pathogenic (recessive)" "" "0000487499" "11" "90" "9" "134019946" "134019946" "del" "0" "00006" "NUP214_000008" "g.134019946del" "" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "" "1574delC" "ACMG PM2, PM3, PM4, PP1" "Germline" "yes" "" "0" "" "" "g.131144559del" "" "pathogenic (recessive)" "ACMG" "0000487500" "11" "90" "9" "134019946" "134019946" "del" "0" "00006" "NUP214_000008" "g.134019946del" "" "{PMID:Fichtman 2019:31178128}, {DOI:Fichtman 2019:10.1016/j.ajhg.2019.05.003}" "" "1574delC" "" "Germline" "yes" "" "0" "" "" "g.131144559del" "" "pathogenic (recessive)" "" "0000536594" "0" "10" "9" "134003803" "134003803" "subst" "0.00215365" "01943" "NUP214_000009" "g.134003803C>T" "" "" "" "NUP214(NM_005085.3):c.326C>T (p.A109V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131128416C>T" "" "benign" "" "0000536600" "0" "30" "9" "134049512" "134049512" "subst" "4.06451E-6" "01943" "NUP214_000015" "g.134049512A>G" "" "" "" "NUP214(NM_005085.3):c.2964A>G (p.S988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131174125A>G" "" "likely benign" "" "0000536603" "0" "30" "9" "134103704" "134103704" "subst" "0.000198702" "01943" "NUP214_000018" "g.134103704C>T" "" "" "" "NUP214(NM_005085.3):c.6060C>T (p.S2020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131228317C>T" "" "likely benign" "" "0000611910" "0" "50" "9" "134074088" "134074088" "subst" "0.000174763" "02325" "NUP214_000019" "g.134074088C>T" "" "" "" "NUP214(NM_005085.4):c.5207C>T (p.A1736V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131198701C>T" "" "VUS" "" "0000611911" "0" "50" "9" "134098206" "134098206" "subst" "9.3398E-5" "02325" "NUP214_000020" "g.134098206G>C" "" "" "" "NUP214(NM_005085.4):c.5791G>C (p.G1931R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131222819G>C" "" "VUS" "" "0000678559" "0" "30" "9" "134073915" "134073915" "subst" "2.03492E-5" "01943" "NUP214_000021" "g.134073915A>G" "" "" "" "NUP214(NM_005085.3):c.5034A>G (p.A1678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678560" "0" "50" "9" "134077045" "134077045" "subst" "8.12196E-6" "01943" "NUP214_000022" "g.134077045A>T" "" "" "" "NUP214(NM_005085.3):c.5533A>T (p.S1845C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698177" "1" "70" "9" "134053745" "134053745" "subst" "1.21879E-5" "00006" "NUP214_000023" "g.134053745G>A" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.131178358G>A" "" "VUS" "" "0000698221" "2" "70" "9" "134073466" "134073466" "subst" "8.13048E-5" "00006" "NUP214_000024" "g.134073466G>A" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.131198079G>A" "" "VUS" "" "0000722311" "0" "30" "9" "134019967" "134019967" "subst" "0.000475633" "01943" "NUP214_000025" "g.134019967C>T" "" "" "" "NUP214(NM_005085.3):c.1595C>T (p.P532L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722312" "0" "30" "9" "134074132" "134074132" "subst" "0.000125923" "01943" "NUP214_000026" "g.134074132A>G" "" "" "" "NUP214(NM_005085.3):c.5251A>G (p.S1751G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815035" "0" "70" "9" "134049478" "134049478" "del" "0" "03779" "NUP214_000028" "g.134049478del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815036" "0" "70" "9" "134006191" "134006191" "subst" "0" "03779" "NUP214_000027" "g.134006191A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000924970" "0" "50" "9" "134050955" "134050955" "subst" "5.69295E-5" "02325" "NUP214_000029" "g.134050955C>T" "" "" "" "NUP214(NM_005085.4):c.3266C>T (p.P1089L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924971" "0" "70" "9" "134073014" "134073014" "dup" "0" "02325" "NUP214_000030" "g.134073014dup" "" "" "" "NUP214(NM_005085.4):c.4133dupC (p.V1379Gfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978449" "0" "30" "9" "134001048" "134001048" "subst" "0" "01804" "AIF1L_000001" "g.134001048G>A" "" "" "" "NUP214(NM_005085.4):c.-44G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978450" "0" "30" "9" "134014653" "134014665" "del" "0" "01804" "NUP214_000033" "g.134014653_134014665del" "" "" "" "NUP214(NM_005085.4):c.1006-15_1006-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978451" "0" "30" "9" "134103728" "134103728" "subst" "0" "01804" "NUP214_000034" "g.134103728C>T" "" "" "" "NUP214(NM_005085.4):c.6074+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997560" "0" "30" "9" "134001105" "134001105" "subst" "0.0001504" "01804" "AIF1L_000002" "g.134001105T>C" "" "" "" "NUP214(NM_005085.3):c.14T>C (p.(Met5Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997561" "0" "30" "9" "134016094" "134016094" "subst" "0.00029037" "01804" "NUP214_000035" "g.134016094C>T" "" "" "" "NUP214(NM_005085.3):c.1291C>T (p.(Pro431Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997562" "0" "30" "9" "134019961" "134019961" "subst" "8.94651E-5" "01804" "NUP214_000036" "g.134019961T>C" "" "" "" "NUP214(NM_005085.3):c.1589T>C (p.(Leu530Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997563" "0" "30" "9" "134021655" "134021655" "subst" "4.06795E-5" "01804" "NUP214_000037" "g.134021655G>A" "" "" "" "NUP214(NM_005085.3):c.1909G>A (p.(Val637Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997564" "0" "50" "9" "134073345" "134073345" "subst" "8.1248E-6" "02329" "NUP214_000038" "g.134073345C>T" "" "" "" "NUP214(NM_005085.4):c.4464C>T (p.S1488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997565" "0" "50" "9" "134073617" "134073617" "subst" "4.06537E-6" "02329" "NUP214_000039" "g.134073617C>A" "" "" "" "NUP214(NM_005085.4):c.4736C>A (p.T1579K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037237" "0" "50" "9" "134004820" "134004820" "subst" "0.000446671" "01804" "NUP214_000040" "g.134004820T>C" "" "" "" "NUP214(NM_005085.4):c.548T>C (p.(Val183Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037238" "0" "10" "9" "134014665" "134014665" "del" "0" "01804" "NUP214_000041" "g.134014665del" "" "" "" "NUP214(NM_005085.4):c.1006-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037239" "0" "30" "9" "134034767" "134034767" "subst" "1.22909E-5" "01804" "NUP214_000042" "g.134034767T>C" "" "" "" "NUP214(NM_005085.4):c.2437-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037240" "0" "30" "9" "134073760" "134073760" "subst" "1.62493E-5" "01804" "NUP214_000043" "g.134073760G>A" "" "" "" "NUP214(NM_005085.4):c.4879G>A (p.(Gly1627Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037241" "0" "50" "9" "134074150" "134074150" "subst" "4.4682E-5" "01804" "NUP214_000044" "g.134074150G>A" "" "" "" "NUP214(NM_005085.4):c.5269G>A (p.(Gly1757Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037242" "0" "50" "9" "134090678" "134090678" "subst" "0" "01804" "NUP214_000045" "g.134090678G>A" "" "" "" "NUP214(NM_005085.4):c.5672G>A (p.(Gly1891Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045345" "1" "70" "9" "134003760" "134003760" "subst" "1.62812E-5" "00006" "NUP214_000046" "g.134003760A>G" "" "{PMID:Iqbal 2015:25704603}" "" "" "" "Germline" "no" "" "0" "" "" "g.131128373A>G" "" "VUS" "" "0001045346" "2" "70" "9" "134074301" "134074301" "subst" "0" "00006" "NUP214_000047" "g.134074301G>A" "" "{PMID:Iqbal 2015:25704603}" "" "" "" "Germline" "no" "" "0" "" "" "g.131198914G>A" "" "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 NUP214 ## Count = 43 "{{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}}" "0000035962" "00025413" "50" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Pro901Ser)" "" "0000248614" "00025413" "10" "1884" "0" "1884" "0" "c.1884A>G" "r.(?)" "p.(Thr628=)" "" "0000296649" "00025413" "10" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Pro574Ser)" "" "0000304672" "00025413" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Gly150Asp)" "" "0000304673" "00025413" "30" "5322" "0" "5322" "0" "c.5322C>T" "r.(?)" "p.(Ala1774=)" "" "0000487495" "00025413" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000487496" "00025413" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000487497" "00025413" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Pro387Ser)" "" "0000487498" "00025413" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Pro387Ser)" "" "0000487499" "00025413" "90" "1574" "0" "1574" "0" "c.1574del" "r.(?)" "p.(Pro525Leufs*6)" "" "0000487500" "00025413" "90" "1574" "0" "1574" "0" "c.1574del" "r.(?)" "p.(Pro525Leufs*6)" "" "0000536594" "00025413" "10" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Ala109Val)" "" "0000536600" "00025413" "30" "2964" "0" "2964" "0" "c.2964A>G" "r.(?)" "p.(Ser988=)" "" "0000536603" "00025413" "30" "6060" "0" "6060" "0" "c.6060C>T" "r.(?)" "p.(Ser2020=)" "" "0000611910" "00025413" "50" "5207" "0" "5207" "0" "c.5207C>T" "r.(?)" "p.(Ala1736Val)" "" "0000611911" "00025413" "50" "5791" "0" "5791" "0" "c.5791G>C" "r.(?)" "p.(Gly1931Arg)" "" "0000678559" "00025413" "30" "5034" "0" "5034" "0" "c.5034A>G" "r.(?)" "p.(Ala1678=)" "" "0000678560" "00025413" "50" "5533" "0" "5533" "0" "c.5533A>T" "r.(?)" "p.(Ser1845Cys)" "" "0000698177" "00025413" "70" "3367" "0" "3367" "0" "c.3367G>A" "r.(?)" "p.(Val1123Ile)" "" "0000698221" "00025413" "70" "4585" "0" "4585" "0" "c.4585G>A" "r.(?)" "p.(Ala1529Thr)" "" "0000722311" "00025413" "30" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Pro532Leu)" "" "0000722312" "00025413" "30" "5251" "0" "5251" "0" "c.5251A>G" "r.(?)" "p.(Ser1751Gly)" "" "0000815035" "00025413" "70" "2930" "0" "2930" "0" "c.2930del" "r.(?)" "p.(Tyr977PhefsTer72)" "" "0000815036" "00025413" "70" "631" "0" "631" "0" "c.631A>G" "r.(?)" "p.(Lys211Glu)" "" "0000924970" "00025413" "50" "3266" "0" "3266" "0" "c.3266C>T" "r.(?)" "p.(Pro1089Leu)" "" "0000924971" "00025413" "70" "4133" "0" "4133" "0" "c.4133dup" "r.(?)" "p.(Val1379Glyfs*60)" "" "0000978449" "00025413" "30" "-44" "0" "-44" "0" "c.-44G>A" "r.(?)" "p.(=)" "" "0000978450" "00025413" "30" "1006" "-15" "1006" "-3" "c.1006-15_1006-3del" "r.spl?" "p.?" "" "0000978451" "00025413" "30" "6074" "10" "6074" "10" "c.6074+10C>T" "r.(=)" "p.(=)" "" "0000997560" "00025413" "30" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Met5Thr)" "" "0000997561" "00025413" "30" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Pro431Ser)" "" "0000997562" "00025413" "30" "1589" "0" "1589" "0" "c.1589T>C" "r.(?)" "p.(Leu530Pro)" "" "0000997563" "00025413" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Met)" "" "0000997564" "00025413" "50" "4464" "0" "4464" "0" "c.4464C>T" "r.(?)" "p.(=)" "" "0000997565" "00025413" "50" "4736" "0" "4736" "0" "c.4736C>A" "r.(?)" "p.(Thr1579Lys)" "" "0001037237" "00025413" "50" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Val183Ala)" "" "0001037238" "00025413" "10" "1006" "-3" "1006" "-3" "c.1006-3del" "r.spl?" "p.?" "" "0001037239" "00025413" "30" "2437" "-3" "2437" "-3" "c.2437-3T>C" "r.spl?" "p.?" "" "0001037240" "00025413" "30" "4879" "0" "4879" "0" "c.4879G>A" "r.(?)" "p.(Gly1627Ser)" "" "0001037241" "00025413" "50" "5269" "0" "5269" "0" "c.5269G>A" "r.(?)" "p.(Gly1757Ser)" "" "0001037242" "00025413" "50" "5672" "0" "5672" "0" "c.5672G>A" "r.(?)" "p.(Gly1891Glu)" "" "0001045345" "00025413" "70" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Ile95Val)" "" "0001045346" "00025413" "70" "5420" "0" "5420" "0" "c.5420G>A" "r.(?)" "p.(Gly1807Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000016225" "0000035962" "0000241499" "0000487495" "0000241500" "0000487496" "0000241501" "0000487497" "0000241501" "0000487499" "0000241502" "0000487498" "0000241502" "0000487500" "0000316051" "0000698177" "0000316051" "0000698221" "0000467515" "0001045345" "0000467515" "0001045346"