### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NANS) # 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}}" "NANS" "N-acetylneuraminic acid synthase" "9" "p24.1-p23" "unknown" "NG_052789.1" "UD_136018950309" "" "https://www.LOVD.nl/NANS" "" "1" "19237" "54187" "605202" "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/NANS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-15 03:32:34" "00000" "2025-11-01 13:22:20" ## 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}}" "00014274" "NANS" "N-acetylneuraminic acid synthase" "001" "NM_018946.3" "" "NP_061819.2" "" "" "" "-132" "1108" "1080" "100818959" "100845365" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05660" "SEMDG" "dysplasia, spondyloepimetaphyseal, Camera-Genevieve type (SEMDG)" "AR" "610442" "" "" "" "00006" "2019-10-15 03:05:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NANS" "05660" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00266153" "" "" "" "2" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "2-generation family, 2 affected sister, unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "Liguria/Tuscany" "Fam1Pat1" "00266154" "" "" "00266153" "1" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "" "F" "no" "Italy" "" "0" "" "" "Liguria/Tuscany" "Fam1Pat2" "00266155" "" "" "" "2" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam2Pat3" "00266156" "" "" "00266155" "1" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "" "F" "" "" "" "0" "" "" "" "Fam2Pat4" "00266157" "" "" "" "2" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "2-generation family, several affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Pat5" "00266158" "" "" "" "2" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam3Pat6" "00266159" "" "" "00266158" "1" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "" "M" "" "Japan" "" "0" "" "" "" "Fam3Pat7" "00266160" "" "" "" "1" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat8" "00266161" "" "" "" "1" "" "00006" "{PMID:van Karnebeek 2016:27213289}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "Pat9" "00409866" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00409867" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat3" "00435320" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00266153" "00139" "00266154" "00139" "00266155" "00139" "00266156" "00139" "00266157" "00139" "00266158" "00139" "00266159" "00139" "00266160" "00139" "00266161" "00139" "00409866" "05517" "00409867" "05517" "00435320" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05517, 05660 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000203932" "00198" "00266153" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "SPONASTRIME dysplasia" "0000203933" "00198" "00266154" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "SPONASTRIME dysplasia" "0000203934" "00198" "00266155" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "skeletal dysplasia, developmental delay" "0000203935" "00198" "00266156" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "skeletal dysplasia, developmental delay" "0000203936" "00198" "00266157" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "" "0000203937" "00198" "00266158" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "short stature, developmental dealy" "0000203938" "00198" "00266159" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "short stature, developmental dealy" "0000203939" "00198" "00266160" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "" "0000203940" "00198" "00266161" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "SEMDG" "" "0000301981" "05517" "00409866" "03322" "Familial, autosomal recessive" "" "see paper; ..." "" "" "skeletal dysplasia at born" "NANS" "" "" "" "SEMDG" "NANS-CDG" "0000301982" "05517" "00409867" "03322" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "SEMDG" "NANS-CDG" "0000325516" "05517" "00435320" "03322" "Familial, autosomal recessive" "09y03m" "see paper; ..." "" "" "" "" "" "" "" "SEMDG" "NANS-CDG" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267275" "00266153" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000267276" "00266154" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267277" "00266155" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000267278" "00266156" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000267279" "00266157" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "SEQ" "DNA" "" "" "0000267280" "00266158" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "SEQ" "DNA" "" "" "0000267281" "00266159" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "SEQ" "DNA" "" "" "0000267282" "00266160" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "SEQ" "DNA" "" "" "0000267283" "00266161" "1" "00006" "00006" "2019-10-15 03:49:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411129" "00409866" "1" "03322" "03322" "2022-05-13 03:14:16" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000411131" "00409867" "1" "03322" "03322" "2022-05-13 03:21:29" "00006" "2022-05-16 09:58:40" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000436800" "00435320" "1" "03322" "00006" "2023-06-30 11:04:26" "00006" "2023-06-30 11:10:06" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES, CytoScan" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000267275" "NANS" "0000267276" "NANS" "0000267277" "NANS" "0000267278" "NANS" "0000267279" "NANS" "0000267280" "NANS" "0000267281" "NANS" "0000267282" "NANS" "0000267283" "NANS" "0000411129" "NANS" "0000411131" "NANS" "0000436800" "NANS" ## 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 = 50 "{{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}}" "0000302876" "0" "50" "9" "100843204" "100843204" "subst" "0" "01943" "NANS_000002" "g.100843204G>A" "" "" "" "NANS(NM_018946.3):c.710G>A (p.R237H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98080922G>A" "" "VUS" "" "0000302877" "0" "50" "9" "100819182" "100819182" "del" "0" "01943" "NANS_000001" "g.100819182del" "" "" "" "NANS(NM_018946.3):c.92delG (p.G31Afs*5), NANS(NM_018946.4):c.92del (p.(Gly31Alafs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98056900del" "" "VUS" "" "0000535579" "0" "90" "9" "100840478" "100840478" "subst" "0.00012184" "01804" "NANS_000003" "g.100840478G>T" "" "" "" "NANS(NM_018946.3):c.452G>T (p.(Arg151Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98078196G>T" "" "pathogenic" "" "0000535580" "0" "90" "9" "100840588" "100840588" "subst" "4.06157E-6" "02327" "NANS_000004" "g.100840588T>C" "" "" "" "NANS(NM_018946.4):c.562T>C (p.(Tyr188His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98078306T>C" "" "pathogenic" "" "0000535581" "0" "90" "9" "100843203" "100843203" "subst" "8.12176E-6" "02327" "NANS_000005" "g.100843203C>T" "" "" "" "NANS(NM_018946.3):c.709C>T (p.(Arg237Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98080921C>T" "" "pathogenic" "" "0000535582" "0" "30" "9" "100843246" "100843246" "subst" "0.0011413" "01804" "NANS_000006" "g.100843246C>T" "" "" "" "NANS(NM_018946.3):c.752C>T (p.(Ser251Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98080964C>T" "" "likely benign" "" "0000535583" "0" "30" "9" "100843371" "100843371" "subst" "0.0036888" "01804" "NANS_000007" "g.100843371C>G" "" "" "" "NANS(NM_018946.3):c.870+7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98081089C>G" "" "likely benign" "" "0000535584" "0" "50" "9" "100850104" "100850104" "subst" "0" "01804" "NANS_000008" "g.100850104A>G" "" "" "" "TRIM14(NM_014788.2):c.977T>C (p.(Val326Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98087822A>G" "" "VUS" "" "0000598319" "1" "90" "9" "100840465" "100840470" "delins" "0" "00006" "NANS_000017" "g.100840465_100840470delinsATGG" "" "{PMID:van Karnebeek 2016:27213289}" "" "449-10_449-5delGATTACinsATGG" "" "Germline" "yes" "" "0" "" "" "g.98078183_98078188delinsATGG" "" "pathogenic (recessive)" "" "0000598320" "1" "90" "9" "100840465" "100840470" "delins" "0" "00006" "NANS_000017" "g.100840465_100840470delinsATGG" "" "{PMID:van Karnebeek 2016:27213289}" "" "449-10_449-5delGATTACinsATGG" "" "Germline" "yes" "" "0" "" "" "g.98078183_98078188delinsATGG" "" "pathogenic (recessive)" "" "0000598321" "1" "90" "9" "100840465" "100840470" "delins" "0" "00006" "NANS_000017" "g.100840465_100840470delinsATGG" "" "{PMID:van Karnebeek 2016:27213289}" "" "449-10_449-5delGATTACinsATGG" "" "Germline" "yes" "" "0" "" "" "g.98078183_98078188delinsATGG" "" "pathogenic (recessive)" "" "0000598322" "1" "90" "9" "100840465" "100840470" "delins" "0" "00006" "NANS_000017" "g.100840465_100840470delinsATGG" "" "{PMID:van Karnebeek 2016:27213289}" "" "449-10_449-5delGATTACinsATGG" "" "Germline" "yes" "" "0" "" "" "g.98078183_98078188delinsATGG" "" "pathogenic (recessive)" "" "0000598323" "3" "70" "9" "100840478" "100840478" "subst" "8.12269E-6" "00006" "NANS_000011" "g.100840478G>A" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "" "" "0" "" "" "g.98078196G>A" "" "likely pathogenic (recessive)" "" "0000598324" "1" "70" "9" "100839249" "100839249" "subst" "0" "00006" "NANS_000016" "g.100839249G>T" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98076967G>T" "" "likely pathogenic (recessive)" "" "0000598325" "1" "70" "9" "100839249" "100839249" "subst" "0" "00006" "NANS_000016" "g.100839249G>T" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98076967G>T" "" "likely pathogenic (recessive)" "" "0000598326" "1" "70" "9" "100819175" "100819175" "subst" "4.18438E-6" "00006" "NANS_000013" "g.100819175C>A" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "" "" "0" "" "" "g.98056893C>A" "" "likely pathogenic (recessive)" "" "0000598327" "1" "70" "9" "100840588" "100840588" "subst" "0" "00006" "NANS_000015" "g.100840588T>A" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "" "" "0" "" "" "g.98078306T>A" "" "likely pathogenic (recessive)" "" "0000598328" "2" "70" "9" "100839240" "100839240" "dup" "0" "00006" "NANS_000009" "g.100839240dup" "" "{PMID:van Karnebeek 2016:27213289}" "" "389_390insT" "" "Germline" "yes" "" "0" "" "" "g.98076958dup" "" "pathogenic (recessive)" "" "0000598329" "2" "90" "9" "100839240" "100839240" "dup" "0" "00006" "NANS_000009" "g.100839240dup" "" "{PMID:van Karnebeek 2016:27213289}" "" "389_390insT" "" "Germline" "yes" "" "0" "" "" "g.98076958dup" "" "pathogenic (recessive)" "" "0000598330" "2" "90" "9" "100839300" "100839300" "subst" "2.08464E-5" "00006" "NANS_000010" "g.100839300G>A" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98077018G>A" "" "pathogenic (recessive)" "" "0000598331" "2" "90" "9" "100839300" "100839300" "subst" "2.08464E-5" "00006" "NANS_000010" "g.100839300G>A" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98077018G>A" "" "pathogenic (recessive)" "" "0000598332" "2" "70" "9" "100845236" "100845238" "dup" "0" "00006" "NANS_000012" "g.100845236_100845238dup" "" "{PMID:van Karnebeek 2016:27213289}" "" "981insATC" "" "Germline" "yes" "" "0" "" "" "g.98082954_98082956dup" "" "likely pathogenic (recessive)" "" "0000598333" "2" "70" "9" "100845236" "100845238" "dup" "0" "00006" "NANS_000012" "g.100845236_100845238dup" "" "{PMID:van Karnebeek 2016:27213289}" "" "981insATC" "" "Germline" "yes" "" "0" "" "" "g.98082954_98082956dup" "" "likely pathogenic (recessive)" "" "0000598334" "2" "70" "9" "100840592" "100840592" "subst" "4.06279E-6" "00006" "NANS_000014" "g.100840592C>T" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "" "" "0" "" "" "g.98078310C>T" "" "likely pathogenic (recessive)" "" "0000598335" "2" "70" "9" "100843203" "100843203" "subst" "8.12176E-6" "00006" "NANS_000005" "g.100843203C>T" "" "{PMID:van Karnebeek 2016:27213289}" "" "" "" "Germline" "" "" "0" "" "" "g.98080921C>T" "" "likely pathogenic (recessive)" "" "0000678464" "0" "50" "9" "100823121" "100823121" "subst" "2.43641E-5" "01943" "NANS_000019" "g.100823121C>G" "" "" "" "NANS(NM_018946.3):c.190C>G (p.R64G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678465" "0" "50" "9" "100840486" "100840486" "subst" "4.06088E-6" "01943" "NANS_000020" "g.100840486G>A" "" "" "" "NANS(NM_018946.3):c.460G>A (p.V154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852031" "0" "50" "9" "100845326" "100845326" "del" "0" "01943" "NANS_000024" "g.100845326del" "" "" "" "NANS(NM_018946.3):c.1069delA (p.I357Sfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868160" "21" "70" "9" "100823138" "100823138" "del" "0" "03322" "NANS_000022" "g.100823138del" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.98060856del" "" "likely pathogenic (recessive)" "ACMG" "0000868161" "21" "70" "9" "100843101" "100843101" "subst" "0" "03322" "NANS_000023" "g.100843101T>C" "" "{PMID:Masunaga 2022:36224347}" "" "" "ACMG PM2, PM3, PP4" "Germline" "" "rs745594354" "0" "" "" "g.98080819T>C" "" "likely pathogenic (recessive)" "ACMG" "0000868163" "11" "90" "9" "100823052" "100823052" "subst" "0" "03322" "NANS_000021" "g.100823052T>A" "" "{PMID:Masunaga 2022:36224347}" "" "" "ACMG PSV1, PM2, PP4" "Germline" "" "" "0" "" "" "g.98060770T>A" "" "pathogenic (recessive)" "ACMG" "0000927940" "11" "70" "9" "100845236" "100845238" "dup" "0" "03322" "NANS_000012" "g.100845236_100845238dup" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.98082954_98082956dup" "" "likely pathogenic (recessive)" "" "0000927942" "21" "70" "9" "100845236" "100845238" "dup" "0" "00006" "NANS_000012" "g.100845236_100845238dup" "" "{PMID:Masunaga 2022:36224347}" "" "" "ACMG PM2, PM3, PM4, PP5" "Germline" "" "" "0" "" "" "g.98082954_98082956dup" "" "likely pathogenic (recessive)" "ACMG" "0000927943" "0" "70" "9" "100845236" "100845238" "dup" "0" "03322" "NANS_000012" "g.100845236_100845238dup" "" "{PMID:Masunaga 2022:36224347}" "" "" "ACMG PM2, PM3, PM4, PP5; maternal segmental isodisomy involving NANS (CytoScan HD analysis)" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.98082954_98082956dup" "" "likely pathogenic (recessive)" "ACMG" "0000943896" "0" "50" "9" "100845143" "100845143" "subst" "0.000142184" "03779" "NANS_000025" "g.100845143G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs147561143" "0" "" "" "" "" "VUS" "" "0000943897" "0" "50" "9" "100845257" "100845259" "del" "0" "03779" "NANS_000026" "g.100845257_100845259del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1234139229" "0" "" "" "" "" "VUS" "" "0000949128" "0" "30" "9" "100819143" "100819143" "subst" "0.00203655" "01804" "NANS_000027" "g.100819143C>T" "" "" "" "NANS(NM_018946.3):c.53C>T (p.(Pro18Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965086" "0" "70" "9" "100843203" "100843203" "subst" "8.12176E-6" "01804" "NANS_000005" "g.100843203C>T" "" "" "" "NANS(NM_018946.3):c.709C>T (p.(Arg237Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978312" "0" "90" "9" "100840588" "100840588" "subst" "4.06157E-6" "01804" "NANS_000004" "g.100840588T>C" "" "" "" "NANS(NM_018946.4):c.562T>C (p.(Tyr188His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025553" "0" "50" "9" "100840540" "100840540" "subst" "8.12117E-6" "02325" "NANS_000028" "g.100840540G>A" "" "" "" "NANS(NM_018946.4):c.514G>A (p.V172M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037104" "0" "70" "9" "100819182" "100819182" "del" "0" "01804" "NANS_000001" "g.100819182del" "" "" "" "NANS(NM_018946.3):c.92delG (p.G31Afs*5), NANS(NM_018946.4):c.92del (p.(Gly31Alafs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037105" "0" "70" "9" "100823187" "100823187" "subst" "2.03037E-5" "01804" "NANS_000029" "g.100823187C>T" "" "" "" "NANS(NM_018946.4):c.256C>T (p.(Arg86*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037106" "0" "30" "9" "100839202" "100839202" "subst" "0.00151399" "01804" "NANS_000030" "g.100839202G>A" "" "" "" "NANS(NM_018946.4):c.351G>A (p.(Met117Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037107" "0" "30" "9" "100843285" "100843285" "subst" "6.90467E-5" "01804" "NANS_000031" "g.100843285G>A" "" "" "" "NANS(NM_018946.4):c.791G>A (p.(Arg264Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037108" "0" "50" "9" "100843305" "100843305" "subst" "0.000158454" "01804" "NANS_000032" "g.100843305C>T" "" "" "" "NANS(NM_018946.4):c.811C>T (p.(Arg271Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053298" "0" "50" "9" "100819142" "100819142" "subst" "8.28885E-5" "01804" "NANS_000033" "g.100819142C>G" "" "" "" "NANS(NM_018946.4):c.52C>G (p.(Pro18Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053299" "0" "50" "9" "100823121" "100823121" "subst" "4.06068E-6" "01804" "NANS_000034" "g.100823121C>T" "" "" "" "NANS(NM_018946.4):c.190C>T (p.(Arg64Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053300" "0" "50" "9" "100840483" "100840483" "subst" "1.62437E-5" "01804" "NANS_000035" "g.100840483A>G" "" "" "" "NANS(NM_018946.4):c.457A>G (p.(Met153Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053301" "0" "50" "9" "100843129" "100843129" "subst" "2.05712E-5" "01804" "NANS_000036" "g.100843129T>C" "" "" "" "NANS(NM_018946.4):c.635T>C (p.(Ile212Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053302" "0" "50" "9" "100843294" "100843294" "subst" "3.24952E-5" "01804" "NANS_000037" "g.100843294G>A" "" "" "" "NANS(NM_018946.4):c.800G>A (p.(Arg267His))" "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 NANS ## Count = 50 "{{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}}" "0000302876" "00014274" "50" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237His)" "" "0000302877" "00014274" "50" "92" "0" "92" "0" "c.92del" "r.(?)" "p.(Gly31AlafsTer5)" "" "0000535579" "00014274" "90" "452" "0" "452" "0" "c.452G>T" "r.(?)" "p.(Arg151Leu)" "" "0000535580" "00014274" "90" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Tyr188His)" "" "0000535581" "00014274" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Cys)" "" "0000535582" "00014274" "30" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Ser251Leu)" "" "0000535583" "00014274" "30" "870" "7" "870" "7" "c.870+7C>G" "r.(=)" "p.(=)" "" "0000535584" "00014274" "50" "5847" "0" "5847" "0" "c.*4767A>G" "r.(=)" "p.(=)" "" "0000598319" "00014274" "90" "449" "-10" "449" "-5" "c.449-10_449-5delinsATGG" "r.[349_603del,=]" "p.[Met117_Ser201del,=]" "" "0000598320" "00014274" "90" "449" "-10" "449" "-5" "c.449-10_449-5delinsATGG" "r.spl" "p.?" "" "0000598321" "00014274" "90" "449" "-10" "449" "-5" "c.449-10_449-5delinsATGG" "r.[349_603del,=]" "p.[Met117_Ser201del,=]" "" "0000598322" "00014274" "90" "449" "-10" "449" "-5" "c.449-10_449-5delinsATGG" "r.[349_603del,=]" "p.[Met117_Ser201del,=]" "" "0000598323" "00014274" "70" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Arg151His)" "" "0000598324" "00014274" "70" "398" "0" "398" "0" "c.398G>T" "r.(?)" "p.(Gly133Val)" "" "0000598325" "00014274" "70" "398" "0" "398" "0" "c.398G>T" "r.(?)" "p.(Gly133Val)" "" "0000598326" "00014274" "70" "85" "0" "85" "0" "c.85C>A" "r.(?)" "p.(His29Asn)" "" "0000598327" "00014274" "70" "562" "0" "562" "0" "c.562T>A" "r.(?)" "p.(Tyr188His)" "" "0000598328" "00014274" "70" "389" "0" "389" "0" "c.389dup" "r.(?)" "p.(Lys131Glnfs*8)" "" "0000598329" "00014274" "90" "389" "0" "389" "0" "c.389dup" "r.(?)" "p.(Lys131Glnfs*8)" "" "0000598330" "00014274" "90" "448" "1" "448" "1" "c.448+1G>A" "r.[349_603del,?]" "p.?p.[Met117_Ser201del,?]" "" "0000598331" "00014274" "90" "448" "1" "448" "1" "c.448+1G>A" "r.[349_603del,?]" "p.[Met117_Ser201del,?]" "" "0000598332" "00014274" "70" "979" "0" "981" "0" "c.979_981dup" "r.(?)" "p.(Ile327dup)" "" "0000598333" "00014274" "70" "979" "0" "981" "0" "c.979_981dup" "r.(?)" "p.(Ile327dup)" "" "0000598334" "00014274" "70" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" "" "0000598335" "00014274" "70" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Cys)" "" "0000678464" "00014274" "50" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Arg64Gly)" "" "0000678465" "00014274" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Met)" "" "0000852031" "00014274" "50" "1069" "0" "1069" "0" "c.1069del" "r.(?)" "p.(Ile357Serfs*?)" "" "0000868160" "00014274" "70" "207" "0" "207" "0" "c.207del" "r.(?)" "p.(Arg69Serfs*57)" "2" "0000868161" "00014274" "70" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Tyr203His)" "5" "0000868163" "00014274" "90" "133" "-12" "133" "-12" "c.133-12T>A" "r.132_133insuguguuguag" "p.Glu45Cysfs*8" "" "0000927940" "00014274" "70" "979" "0" "981" "0" "c.979_981dup" "r.(?)" "p.(Ile327dup)" "" "0000927942" "00014274" "70" "979" "0" "981" "0" "c.979_981dup" "r.(?)" "p.(Ile327dup)" "" "0000927943" "00014274" "70" "979" "0" "981" "0" "c.979_981dup" "r.(?)" "p.(Ile327dup)" "" "0000943896" "00014274" "50" "886" "0" "886" "0" "c.886G>C" "r.(?)" "p.(Val296Leu)" "" "0000943897" "00014274" "50" "1000" "0" "1002" "0" "c.1000_1002del" "r.(?)" "p.(Lys334del)" "" "0000949128" "00014274" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "0000965086" "00014274" "70" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Cys)" "" "0000978312" "00014274" "90" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Tyr188His)" "" "0001025553" "00014274" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Val172Met)" "" "0001037104" "00014274" "70" "92" "0" "92" "0" "c.92del" "r.(?)" "p.(Gly31AlafsTer5)" "" "0001037105" "00014274" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86*)" "" "0001037106" "00014274" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Met117Ile)" "" "0001037107" "00014274" "30" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264Gln)" "" "0001037108" "00014274" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0001053298" "00014274" "50" "52" "0" "52" "0" "c.52C>G" "r.(?)" "p.(Pro18Ala)" "" "0001053299" "00014274" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64Trp)" "" "0001053300" "00014274" "50" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Met153Val)" "" "0001053301" "00014274" "50" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.(Ile212Thr)" "" "0001053302" "00014274" "50" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Arg267His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000267275" "0000598319" "0000267275" "0000598328" "0000267276" "0000598320" "0000267276" "0000598329" "0000267277" "0000598321" "0000267277" "0000598330" "0000267278" "0000598322" "0000267278" "0000598331" "0000267279" "0000598323" "0000267280" "0000598324" "0000267280" "0000598332" "0000267281" "0000598325" "0000267281" "0000598333" "0000267282" "0000598326" "0000267282" "0000598334" "0000267283" "0000598327" "0000267283" "0000598335" "0000411129" "0000868160" "0000411129" "0000927940" "0000411131" "0000868161" "0000411131" "0000868163" "0000436800" "0000927942" "0000436800" "0000927943"