### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUP37) # 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}}" "NUP37" "nucleoporin 37kDa" "12" "q23" "unknown" "NC_000012.11" "UD_132319670600" "" "https://www.LOVD.nl/NUP37" "" "1" "29929" "79023" "609264" "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/NUP37_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-11 08:41:24" "00006" "2025-02-28 15:48:19" ## 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}}" "00014927" "NUP37" "nucleoporin 37kDa" "001" "NM_024057.2" "" "NP_076962.2" "" "" "" "-65" "1143" "981" "102512361" "102467970" "" "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" "06190" "MCPH24" "?Microcephaly 24, primary, autosomal recessive" "AR" "618179" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NUP37" "06190" ## 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}}" "00296692" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "" "M" "" "United States" "" "0" "" "" "African American" "NCG_00096" "00464291" "" "" "" "1" "" "00006" "{PMID:Tidwell 2020:33154040}, {DOI:Tidwell 2020:10.1101/mcs.a005728}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "United States" "" "0" "" "" "white;Peru;native American" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00296692" "00198" "00464291" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06190 ## 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}}" "0000224092" "00198" "00296692" "00006" "Unknown" "22y" "suspected short QT syndrome; arrhythmia, cardiomyopathy, atrial fibrillation, family history sudden cardiac death" "" "" "" "" "" "" "" "" "" "cardiovascular disease" "" "0000350354" "00198" "00464291" "00006" "Isolated (sporadic)" "03y06m" "see paper; ..., microcephaly, severe global developmental delay; ventricular septal defect, patent foramen ovale, rhizomelic shortening extremities, pectus carinatum, underdeveloped genitalia (severe penoscrotal hypospadias, cryptorchidism); distinctive facial features, bulbous nasal tip, microretrognathia, downturned corners mouth" "" "" "" "" "" "" "" "" "SSMG" "microcephaly, global developmental delay" "" ## 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}}" "0000297802" "00296692" "1" "00006" "00006" "2020-04-11 08:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465922" "00464291" "1" "00006" "00006" "2025-02-28 15:29:10" "00006" "2025-02-28 15:35:26" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000297802" "NUP37" "0000465922" "ARCN1" ## 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 = 4 "{{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}}" "0000323040" "0" "50" "12" "102505904" "102505904" "subst" "0" "01804" "NUP37_000001" "g.102505904G>A" "" "" "" "NUP37(NM_024057.2):c.263C>T (p.(Ser88Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102112126G>A" "" "VUS" "" "0000546219" "0" "70" "12" "102505928" "102505928" "subst" "0" "02329" "NUP37_000002" "g.102505928C>T" "" "" "" "NUP37(NM_024057.4):c.239G>A (p.W80*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102112150C>T" "" "likely pathogenic" "" "0000660470" "0" "90" "12" "102494838" "102494838" "subst" "0" "00006" "NUP37_000003" "g.102494838G>C" "" "{PMID:Haskell 2017:28611029}" "" "" "involvement variant in disease phenotype suggested" "Germline/De novo (untested)" "" "" "0" "" "" "g.102101060G>C" "" "likely pathogenic (dominant)" "" "0001029708" "20" "90" "12" "102492883" "102576406" "del" "0" "00006" "NUP37_000004" "g.(102479635_102492883)_(102576406_102589089)del" "" "{PMID:Tidwell 2020:33154040}, {DOI:Tidwell 2020:10.1101/mcs.a005728}" "" "" "95-kb deletion ex1-4 NUP37 and ex1-9 PARPBP" "Germline" "" "" "0" "" "" "g.(102085857_102099105)_(102182628_102195311)del" "" "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 NUP37 ## Count = 4 "{{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}}" "0000323040" "00014927" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "0000546219" "00014927" "70" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Trp80Ter)" "" "0000660470" "00014927" "90" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Ser109*)" "" "0001029708" "00014927" "90" "-65" "0" "449" "1" "c.(-76793_-65)_(449+1_450-1)del" "r.0" "p.0" "_1_4i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000297802" "0000660470" "0000465922" "0001029708"