### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUBPL) # 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}}" "NUBPL" "nucleotide binding protein-like" "14" "q12" "unknown" "NG_028349.1" "UD_132118637843" "" "https://www.LOVD.nl/NUPBL" "" "1" "20278" "80224" "613621" "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/NUBPL_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-05-19 07:46:15" "00000" "2025-05-05 21:14:00" ## 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}}" "00000547" "NUBPL" "transcript variant 1" "001" "NM_025152.2" "" "NP_079428.2" "" "" "" "-55" "3004" "960" "32030591" "32330430" "00000" "2012-09-13 12:31:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05939" "MC1DN21" "mitochondrial complex I deficiency, nuclear type 21 (MC1DN21)" "AR" "618242" "" "" "" "00006" "2021-05-19 07:45:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NUBPL" "00611" "NUBPL" "05939" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00291030" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291031" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291032" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00373724" "" "" "" "1" "" "00006" "{PMID:Calvo 2010:20818383}, {PMID:Tucker 2012:22072591}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Australia" "" "0" "" "" "" "DT35" "00373730" "" "" "" "1" "" "00006" "{PMID:Kevelam 2013:23553477}" "" "" "" "Argentina" "" "0" "" "" "" "Pat1" "00373731" "" "" "" "1" "" "00006" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germany" "" "0" "" "" "" "Pat2" "00373732" "" "" "" "2" "" "00006" "{PMID:Kevelam 2013:23553477}" "family, 2 affected sibs" "" "" "Canada" "" "0" "" "" "" "Pat3" "00373733" "" "" "00373732" "1" "" "00006" "{PMID:Kevelam 2013:23553477}" "" "" "" "Canada" "" "0" "" "" "" "Pat4" "00373734" "" "" "" "1" "" "00006" "{PMID:Kevelam 2013:23553477}" "" "" "" "United States" "" "0" "" "" "" "Pat5" "00373735" "" "" "" "1" "" "00006" "{PMID:Kevelam 2013:23553477}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat6" "00373736" "" "" "" "2" "" "00006" "{PMID:Friedrich 2020:31917109}" "2-generation family, 2 affected identical twin brothers, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Europe-N" "TwinA/B" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00291030" "00198" "00291031" "00198" "00291032" "00198" "00373724" "00611" "00373730" "00611" "00373731" "00611" "00373732" "00611" "00373733" "00611" "00373734" "00611" "00373735" "00611" "00373736" "00611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00611, 01157, 05939 ## Count = 10 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000268949" "00611" "00373724" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial encephalomyopathy" "" "0000268954" "00611" "00373730" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial complex I deficiency" "" "0000268955" "00611" "00373731" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial complex I deficiency" "" "0000268956" "00611" "00373732" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial complex I deficiency" "" "0000268957" "00611" "00373733" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial complex I deficiency" "" "0000268958" "00611" "00373734" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial complex I deficiency" "" "0000268959" "00611" "00373735" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "mitochondrial complex I deficiency" "" "0000268960" "00611" "00373736" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN21" "complex leukoencephalopathy with thalamic involvement" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000292198" "00291030" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292199" "00291031" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292200" "00291032" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000374957" "00373724" "1" "00006" "00006" "2021-05-19 08:29:45" "00006" "2021-05-19 09:08:13" "arrayCGH;PCRlr;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374963" "00373730" "1" "00006" "00006" "2021-05-19 11:17:39" "" "" "SEQ" "DNA" "" "" "0000374964" "00373731" "1" "00006" "00006" "2021-05-19 11:31:59" "" "" "SEQ" "DNA" "" "" "0000374965" "00373732" "1" "00006" "00006" "2021-05-19 11:31:59" "" "" "SEQ" "DNA" "" "" "0000374966" "00373733" "1" "00006" "00006" "2021-05-19 11:31:59" "" "" "SEQ" "DNA" "" "" "0000374967" "00373734" "1" "00006" "00006" "2021-05-19 11:31:59" "" "" "SEQ" "DNA" "" "" "0000374968" "00373735" "1" "00006" "00006" "2021-05-19 11:31:59" "" "" "SEQ" "DNA" "" "" "0000374969" "00373736" "1" "00006" "00006" "2021-05-19 11:53:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000374957" "NUBPL" "0000374963" "NUBPL" "0000374964" "NUBPL" "0000374965" "NUBPL" "0000374966" "NUBPL" "0000374967" "NUBPL" "0000374968" "NUBPL" "0000374969" "NUBPL" ## 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 = 52 "{{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}}" "0000005352" "3" "50" "14" "32214684" "32214684" "subst" "0" "00037" "NUBPL_000007" "g.32214684T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31745478T>G" "" "VUS" "" "0000005353" "3" "50" "14" "32215180" "32215180" "subst" "0" "00037" "NUBPL_000005" "g.32215180G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31745974G>A" "" "VUS" "" "0000005354" "3" "50" "14" "32215230" "32215230" "subst" "0" "00037" "NUBPL_000003" "g.32215230C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31746024C>G" "" "VUS" "" "0000005355" "3" "50" "14" "32215452" "32215452" "subst" "0" "00037" "NUBPL_000001" "g.32215452T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31746246T>C" "" "VUS" "" "0000013296" "3" "50" "14" "32214684" "32214684" "subst" "0" "00037" "NUBPL_000007" "g.32214684T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31745478T>G" "" "VUS" "" "0000013297" "3" "50" "14" "32215180" "32215180" "subst" "0" "00037" "NUBPL_000005" "g.32215180G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31745974G>A" "" "VUS" "" "0000013298" "3" "50" "14" "32215230" "32215230" "subst" "0" "00037" "NUBPL_000003" "g.32215230C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31746024C>G" "" "VUS" "" "0000013299" "3" "50" "14" "32215452" "32215452" "subst" "0" "00037" "NUBPL_000001" "g.32215452T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31746246T>C" "" "VUS" "" "0000253640" "0" "10" "14" "32257065" "32257065" "subst" "0.0041664" "01943" "NUBPL_000011" "g.32257065A>C" "" "" "" "NUBPL(NM_025152.2):c.593A>C (p.N198T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31787859A>C" "" "benign" "" "0000296646" "0" "10" "14" "32047217" "32047217" "subst" "0.353177" "02325" "NUBPL_000008" "g.32047217T>C" "" "" "" "NUBPL(NM_001201573.2):c.-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31578011T>C" "" "benign" "" "0000296647" "0" "10" "14" "32142541" "32142542" "del" "0" "02325" "NUBPL_000009" "g.32142541_32142542del" "" "" "" "NUBPL(NM_025152.3):c.383-20_383-19delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31673335_31673336del" "" "benign" "" "0000296648" "0" "10" "14" "32142556" "32142556" "dup" "0" "02325" "NUBPL_000010" "g.32142556dup" "" "" "" "NUBPL(NM_025152.3):c.383-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31673350dup" "" "benign" "" "0000552515" "0" "30" "14" "32034231" "32034231" "subst" "0" "01804" "NUBPL_000012" "g.32034231C>T" "" "" "" "NUBPL(NM_025152.2):c.268C>T (p.(Leu90Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31565025C>T" "" "likely benign" "" "0000552517" "0" "30" "14" "32257017" "32257017" "subst" "0.00249677" "02325" "NUBPL_000014" "g.32257017T>C" "" "" "" "NUBPL(NM_025152.2):c.545T>C (p.V182A), NUBPL(NM_025152.3):c.545T>C (p.(Val182Ala), p.V182A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31787811T>C" "" "likely benign" "" "0000552518" "0" "50" "14" "32295852" "32295852" "subst" "0" "01804" "NUBPL_000015" "g.32295852A>C" "" "" "" "NUBPL(NM_001201573.1):c.337A>C (p.(Thr113Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826646A>C" "" "VUS" "" "0000552519" "0" "30" "14" "32319298" "32319298" "subst" "0.00354572" "02326" "NUBPL_000016" "g.32319298T>C" "" "" "" "NUBPL(NM_025152.3):c.815-27T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31850092T>C" "" "likely benign" "" "0000614954" "0" "50" "14" "32031331" "32031331" "subst" "0.000134325" "01943" "NUBPL_000017" "g.32031331G>A" "" "" "" "NUBPL(NM_025152.2):c.166G>A (p.G56R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31562125G>A" "" "VUS" "" "0000614956" "0" "30" "14" "32257017" "32257017" "subst" "0.00249677" "01943" "NUBPL_000014" "g.32257017T>C" "" "" "" "NUBPL(NM_025152.2):c.545T>C (p.V182A), NUBPL(NM_025152.3):c.545T>C (p.(Val182Ala), p.V182A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31787811T>C" "" "likely benign" "" "0000648887" "1" "50" "14" "32030645" "32030645" "subst" "0.00731872" "03575" "NUBPL_000019" "g.32030645C>T" "16/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 16 heterozygous, no homozygous; {DB:CLININrs45468395}" "Germline" "" "rs45468395" "0" "" "" "g.31561439C>T" "" "VUS" "" "0000648888" "1" "50" "14" "32142693" "32142693" "subst" "0" "03575" "NUBPL_000020" "g.32142693G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224124}" "Germline" "" "rs863224124" "0" "" "" "g.31673487G>A" "" "VUS" "" "0000648889" "1" "50" "14" "32319298" "32319298" "subst" "0.00354572" "03575" "NUBPL_000016" "g.32319298T>C" "7/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs118161496}" "Germline" "" "rs118161496" "0" "" "" "g.31850092T>C" "" "VUS" "" "0000724757" "0" "30" "14" "32295866" "32295866" "subst" "0.000382114" "01943" "NUBPL_000021" "g.32295866C>T" "" "" "" "NUBPL(NM_025152.2):c.639C>T (p.I213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785871" "11" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Green 2020:32467599}, {PMID:Green 2020:32467599}" "" "" "" "Germline" "" "" "0" "" "" "g.31562125G>A" "" "likely benign" "" "0000785872" "11" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Green 2020:32467599}, {PMID:Green 2020:32467599}" "" "" "" "Germline" "" "" "0" "" "" "g.31850092T>C" "" "pathogenic (recessive)" "" "0000785874" "21" "90" "14" "31867183" "32124600" "delins" "0" "00006" "NUBPL_000022" "g.31867183_32124600delins[32142796_32280477inv;CCTCAGCCCCTCAAA]" "" "{PMID:Calvo 2010:20818383}, {PMID:Tucker 2012:22072591}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785875" "0" "10" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Tucker 2012:22072591}" "" "" "lentiviral cDNA expression in fibroblasts gives stable protein able to restore CI activity" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000785882" "3" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "no parental DNA available" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785883" "3" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785884" "11" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785885" "11" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785886" "11" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785887" "11" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785888" "21" "30" "14" "32031331" "32031331" "subst" "0.000134325" "00006" "NUBPL_000017" "g.32031331G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785889" "11" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785890" "11" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785891" "11" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785892" "11" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785893" "21" "90" "14" "32319298" "32319298" "subst" "0.00354572" "00006" "NUBPL_000016" "g.32319298T>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785894" "21" "90" "14" "32295894" "32295895" "ins" "0" "00006" "NUBPL_000023" "g.32295894_32295895insCCTTGTGCTG" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "g.31826688_31826689insCCTTGTGCTG" "" "pathogenic (recessive)" "" "0000785896" "21" "70" "14" "32068516" "32068516" "subst" "2.03287E-5" "00006" "NUBPL_000024" "g.32068516G>T" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785897" "21" "70" "14" "32068516" "32068516" "subst" "2.03287E-5" "00006" "NUBPL_000024" "g.32068516G>T" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785898" "20" "90" "14" "32295921" "32295921" "subst" "1.62677E-5" "00006" "NUBPL_000025" "g.32295921G>A" "" "{PMID:Kevelam 2013:23553477}" "" "" "no maternal DNA available" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785899" "11" "70" "14" "32257051" "32257051" "subst" "0" "00006" "NUBPL_000026" "g.32257051A>C" "" "{PMID:Kevelam 2013:23553477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785900" "11" "90" "14" "32295921" "32295921" "subst" "1.62677E-5" "00006" "NUBPL_000025" "g.32295921G>A" "" "{PMID:Friedrich 2020:31917109}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785901" "21" "70" "14" "32068554" "32068554" "subst" "0" "00006" "NUBPL_000027" "g.32068554G>A" "" "{PMID:Friedrich 2020:31917109}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000806395" "0" "50" "14" "32030647" "32030647" "subst" "0.000109317" "01943" "NUBPL_000028" "g.32030647T>C" "" "" "" "NUBPL(NM_025152.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806396" "0" "50" "14" "32142591" "32142591" "subst" "0.000654129" "01943" "NUBPL_000029" "g.32142591G>A" "" "" "" "NUBPL(NM_025152.2):c.413G>A (p.G138D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891778" "0" "50" "14" "32142755" "32142755" "subst" "9.34382E-5" "02326" "NUBPL_000030" "g.32142755C>T" "" "" "" "NUBPL(NM_025152.3):c.488C>T (p.S163L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980877" "0" "30" "14" "32257017" "32257017" "subst" "0.00249677" "01804" "NUBPL_000014" "g.32257017T>C" "" "" "" "NUBPL(NM_025152.2):c.545T>C (p.V182A), NUBPL(NM_025152.3):c.545T>C (p.(Val182Ala), p.V182A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980878" "0" "50" "14" "32319298" "32319298" "subst" "0.00354572" "01804" "NUBPL_000016" "g.32319298T>C" "" "" "" "NUBPL(NM_025152.3):c.815-27T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000976" "0" "90" "14" "32142757" "32142757" "dup" "0" "01804" "NUBPL_000031" "g.32142757dup" "" "" "" "NUBPL(NM_001201573.1):c.201_202insG (p.(Gln68fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039948" "0" "50" "14" "32030658" "32030658" "subst" "0" "01804" "NUBPL_000032" "g.32030658C>T" "" "" "" "NUBPL(NM_025152.3):c.13C>T (p.(Gln5*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 NUBPL ## Count = 52 "{{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}}" "0000005352" "00000547" "50" "514" "-42302" "514" "-42302" "c.514-42302T>G" "r.(=)" "p.(=)" "" "0000005353" "00000547" "50" "514" "-41806" "514" "-41806" "c.514-41806G>A" "r.(=)" "p.(=)" "" "0000005354" "00000547" "50" "514" "-41756" "514" "-41756" "c.514-41756C>G" "r.(=)" "p.(=)" "" "0000005355" "00000547" "50" "514" "-41534" "514" "-41534" "c.514-41534T>C" "r.(=)" "p.(=)" "" "0000013296" "00000547" "50" "514" "-42302" "514" "-42302" "c.514-42302T>G" "r.(=)" "p.(=)" "" "0000013297" "00000547" "50" "514" "-41806" "514" "-41806" "c.514-41806G>A" "r.(=)" "p.(=)" "" "0000013298" "00000547" "50" "514" "-41756" "514" "-41756" "c.514-41756C>G" "r.(=)" "p.(=)" "" "0000013299" "00000547" "50" "514" "-41534" "514" "-41534" "c.514-41534T>C" "r.(=)" "p.(=)" "" "0000253640" "00000547" "10" "593" "0" "593" "0" "c.593A>C" "r.(?)" "p.(Asn198Thr)" "" "0000296646" "00000547" "10" "291" "12963" "291" "12963" "c.291+12963T>C" "r.(=)" "p.(=)" "" "0000296647" "00000547" "10" "383" "-20" "383" "-19" "c.383-20_383-19del" "r.(=)" "p.(=)" "" "0000296648" "00000547" "10" "383" "-5" "383" "-5" "c.383-5dup" "r.spl?" "p.?" "" "0000552515" "00000547" "30" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Leu90Phe)" "" "0000552517" "00000547" "30" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000552518" "00000547" "50" "625" "0" "625" "0" "c.625A>C" "r.(?)" "p.(Thr209Pro)" "" "0000552519" "00000547" "30" "815" "-27" "815" "-27" "c.815-27T>C" "r.(=)" "p.(=)" "" "0000614954" "00000547" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000614956" "00000547" "30" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000648887" "00000547" "50" "-1" "0" "-1" "0" "c.-1C>T" "r.(=)" "p.(=)" "" "0000648888" "00000547" "50" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Met142Ile)" "" "0000648889" "00000547" "50" "815" "-27" "815" "-27" "c.815-27T>C" "r.(=)" "p.(=)" "" "0000724757" "00000547" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Ile213=)" "" "0000785871" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785872" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.[815_897del,814_815ins[815-72_815-28;c;815-26_815-1],=]" "p.?" "" "0000785874" "00000547" "90" "-163463" "0" "383" "-17961" "c.-163463_383-17961delins[[513+16_608-15358inv];CCTCAGCCCCTCAAA]" "r.0?" "p.0?" "_1_4i;6i_7i" "0000785875" "00000547" "10" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.Gly56Arg" "" "0000785882" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.spl" "p.?" "" "0000785883" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785884" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785885" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785886" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785887" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785888" "00000547" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000785889" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.spl" "p.?" "" "0000785890" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.spl" "p.?" "" "0000785891" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.spl" "p.?" "" "0000785892" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.spl" "p.?" "" "0000785893" "00000547" "90" "815" "-27" "815" "-27" "c.815-27T>C" "r.spl" "p.?" "" "0000785894" "00000547" "90" "667" "0" "668" "0" "c.667_668insCCTTGTGCTG" "r.(?)" "p.(Glu223Alafs*4)" "" "0000785896" "00000547" "70" "313" "0" "313" "0" "c.313G>T" "r.(?)" "p.(Asp105Tyr)" "" "0000785897" "00000547" "70" "313" "0" "313" "0" "c.313G>T" "r.(?)" "p.(Asp105Tyr)" "" "0000785898" "00000547" "90" "693" "1" "693" "1" "c.693+1G>A" "r.spl" "p.?" "" "0000785899" "00000547" "70" "579" "0" "579" "0" "c.579A>C" "r.(?)" "p.(Leu193Phe)" "" "0000785900" "00000547" "90" "693" "1" "693" "1" "c.693+1G>A" "r.spl" "p.?" "" "0000785901" "00000547" "70" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Met117Ile)" "" "0000806395" "00000547" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000806396" "00000547" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Gly138Asp)" "" "0000891778" "00000547" "50" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Ser163Leu)" "" "0000980877" "00000547" "30" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000980878" "00000547" "50" "815" "-27" "815" "-27" "c.815-27T>C" "r.(=)" "p.(=)" "" "0001000976" "00000547" "90" "490" "0" "490" "0" "c.490dup" "r.(?)" "p.(Ala164Glyfs*3)" "" "0001039948" "00000547" "50" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Gln5*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005352" "0000000209" "0000005353" "0000000209" "0000005354" "0000000209" "0000005355" "0000000210" "0000013296" "0000000210" "0000013297" "0000000210" "0000013298" "0000000210" "0000013299" "0000292198" "0000648887" "0000292199" "0000648888" "0000292200" "0000648889" "0000374957" "0000785871" "0000374957" "0000785872" "0000374957" "0000785874" "0000374963" "0000785882" "0000374963" "0000785883" "0000374964" "0000785884" "0000374964" "0000785889" "0000374964" "0000785894" "0000374965" "0000785885" "0000374965" "0000785890" "0000374965" "0000785896" "0000374966" "0000785886" "0000374966" "0000785891" "0000374966" "0000785897" "0000374967" "0000785887" "0000374967" "0000785892" "0000374967" "0000785898" "0000374968" "0000785888" "0000374968" "0000785893" "0000374968" "0000785899" "0000374969" "0000785900" "0000374969" "0000785901"