### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAIP) # 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}}" "NAIP" "NLR family, apoptosis inhibitory protein" "5" "q13.2" "unknown" "NG_008724.1" "UD_132119138695" "" "https://www.LOVD.nl/NAIP" "" "1" "7634" "4671" "600355" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-11 10:40:36" "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}}" "00014264" "NAIP" "transcript variant 1" "002" "NM_004536.2" "" "NP_004527.2" "" "" "" "-718" "5833" "4212" "70320941" "70264310" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00404920" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam2" "00404921" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam3" "00404922" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam4" "00404923" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam5" "00404970" "" "" "" "7" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404971" "" "" "" "3" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404972" "" "" "" "4" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404973" "" "" "" "143" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404974" "" "" "" "19" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404975" "" "" "" "5" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404976" "" "" "" "2" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404977" "" "" "" "30" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404978" "" "" "" "22" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404979" "" "" "" "4" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404980" "" "" "" "2" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00404920" "05123" "00404921" "05123" "00404922" "05123" "00404923" "05123" "00404970" "05123" "00404971" "05123" "00404972" "05123" "00404973" "05123" "00404974" "05123" "00404975" "05123" "00404976" "05123" "00404977" "05123" "00404978" "05123" "00404979" "05123" "00404980" "05123" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05123 ## Count = 15 "{{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}}" "0000297478" "05123" "00404920" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "0000297479" "05123" "00404921" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "0000297480" "05123" "00404922" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "0000297481" "05123" "00404923" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "0000297528" "05123" "00404970" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297529" "05123" "00404971" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297530" "05123" "00404972" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297531" "05123" "00404973" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297532" "05123" "00404974" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297533" "05123" "00404975" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297534" "05123" "00404976" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297535" "05123" "00404977" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297536" "05123" "00404978" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297537" "05123" "00404979" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297538" "05123" "00404980" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000406158" "00404920" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406159" "00404921" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406160" "00404922" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406161" "00404923" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406208" "00404970" "1" "00006" "00006" "2022-03-11 14:56:34" "" "" "MLPA;SEQ" "DNA" "" "" "0000406209" "00404971" "1" "00006" "00006" "2022-03-11 15:23:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000406210" "00404972" "1" "00006" "00006" "2022-03-11 15:24:43" "" "" "MLPA;SEQ" "DNA" "" "" "0000406211" "00404973" "1" "00006" "00006" "2022-03-11 15:26:07" "" "" "MLPA;SEQ" "DNA" "" "" "0000406212" "00404974" "1" "00006" "00006" "2022-03-11 15:27:38" "" "" "MLPA;SEQ" "DNA" "" "" "0000406213" "00404975" "1" "00006" "00006" "2022-03-11 15:32:48" "" "" "MLPA;SEQ" "DNA" "" "" "0000406214" "00404976" "1" "00006" "00006" "2022-03-11 15:37:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000406215" "00404977" "1" "00006" "00006" "2022-03-11 15:38:18" "" "" "MLPA;SEQ" "DNA" "" "" "0000406216" "00404978" "1" "00006" "00006" "2022-03-11 15:39:40" "" "" "MLPA;SEQ" "DNA" "" "" "0000406217" "00404979" "1" "00006" "00006" "2022-03-11 15:40:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000406218" "00404980" "1" "00006" "00006" "2022-03-11 15:42:44" "" "" "MLPA;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{geneid}}" "0000406158" "SMN1" "0000406159" "SMN1" "0000406160" "SMN1" "0000406161" "SMN1" "0000406208" "NAIP" "0000406208" "SMN1" "0000406208" "SMN2" "0000406209" "NAIP" "0000406209" "SMN1" "0000406209" "SMN2" "0000406210" "NAIP" "0000406210" "SMN1" "0000406210" "SMN2" "0000406211" "NAIP" "0000406211" "SMN1" "0000406211" "SMN2" "0000406212" "NAIP" "0000406212" "SMN1" "0000406212" "SMN2" "0000406213" "NAIP" "0000406213" "SMN1" "0000406213" "SMN2" "0000406214" "NAIP" "0000406214" "SMN1" "0000406214" "SMN2" "0000406215" "NAIP" "0000406215" "SMN1" "0000406215" "SMN2" "0000406216" "NAIP" "0000406216" "SMN1" "0000406216" "SMN2" "0000406217" "NAIP" "0000406217" "SMN1" "0000406217" "SMN2" "0000406218" "NAIP" "0000406218" "SMN1" "0000406218" "SMN2" ## 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 = 16 "{{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}}" "0000842449" "2" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "7/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842451" "2" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842452" "2" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842453" "2" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842454" "2" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842461" "3" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "3/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842464" "3" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "4/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842466" "3" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "143/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842469" "3" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "19/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842472" "3" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "5/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842475" "1" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "2/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842477" "1" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "30/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842480" "1" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "22/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842483" "1" "90" "5" "70264310" "70320941" "del" "0" "00006" "NAIP_000001" "g.(?_70264310)_(70320941_?)del" "4/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)del" "" "likely benign" "" "0000842486" "1" "90" "5" "70264310" "70320941" "dup" "0" "00006" "NAIP_000002" "g.(?_70264310)_(70320941_?)dup" "2/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del NAIP" "" "Germline" "" "" "0" "" "" "g.(?_70968483)_(71025114_?)dup" "" "likely benign" "" "0001035295" "0" "50" "5" "70272761" "70272761" "subst" "0" "01804" "NAIP_000004" "g.70272761C>T" "" "" "" "NAIP(NM_004536.3):c.3567G>A (p.(Ser1189=))" "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 NAIP ## Count = 16 "{{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}}" "0000842449" "00014264" "90" "0" "0" "0" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842451" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842452" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842453" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842454" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842461" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842464" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842466" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842469" "00014264" "90" "0" "0" "0" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842472" "00014264" "90" "0" "0" "0" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842475" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842477" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842480" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842483" "00014264" "90" "" "0" "" "0" "c.-718_*1621{0}" "r.0" "p.0" "_1_17_" "0000842486" "00014264" "90" "" "0" "" "0" "c.-718_*1621{2}" "r.(=)" "p.(=)" "_1_17_" "0001035295" "00014264" "50" "3567" "0" "3567" "0" "c.3567G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000406158" "0000842451" "0000406159" "0000842452" "0000406160" "0000842453" "0000406161" "0000842454" "0000406208" "0000842449" "0000406209" "0000842461" "0000406210" "0000842464" "0000406211" "0000842466" "0000406212" "0000842469" "0000406213" "0000842472" "0000406214" "0000842475" "0000406215" "0000842477" "0000406216" "0000842480" "0000406217" "0000842483" "0000406218" "0000842486"