### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SFTPB) # 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}}" "SFTPB" "surfactant protein B" "2" "p12-p11.2" "unknown" "NG_016967.1" "UD_132119058077" "" "https://www.LOVD.nl/SFTPB" "" "1" "10801" "6439" "178640" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SFTPB_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2023-05-24 12:04:44" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000100" "SFTPB" "surfactant protein B, transcript variant 2" "001" "NM_198843.2" "" "NP_942140.2" "" "" "" "-100" "2740" "1182" "85895864" "85884440" "00002" "2012-05-11 13:12:06" "" "" "00025835" "SFTPB" "transcript variant 1" "002" "NM_000542.3" "" "NP_000533.3" "" "" "" "-100" "3567" "1182" "85895864" "85884440" "00006" "2023-05-24 12:03:52" "" "" ## 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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02037" "SMDP1" "surfactant metabolism dysfunction, pulmonary, type 1 (SMDP-1)" "AR" "265120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SFTPB" "02037" ## 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}}" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00295355" "" "" "" "223" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295381" "" "" "" "223" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305341" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305342" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00435123" "" "" "" "2" "" "01543" "Accepted manuscript in European Journal of Human Genetics" "" "M" "yes" "France" ">59y" "0" "" "" "" "father" "00435124" "" "" "00435123" "1" "" "01543" "Accepted manuscript in European Journal of Human Genetics" "Son of 17GM02222 (individual 00435123)" "M" "yes" "France" ">26y" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000014" "00138" "00000014" "05378" "00295355" "00198" "00295381" "00198" "00305341" "00198" "00305342" "00198" "00435123" "02037" "00435124" "02037" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 02037, 05378 ## 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}}" "0000325355" "02037" "00435123" "01543" "Familial, autosomal recessive" "" "" "34y" "" "34y" "" "" "" "" "" "Interstitial lung disease" "Lung fibrosis" "" "0000325356" "02037" "00435124" "01543" "Familial, autosomal recessive" "" "" "02y" "16y" "" "" "" "" "" "" "Interstitial lung disease" "Interstitial lung disease" "" ## 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}}" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000296523" "00295355" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296549" "00295381" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306470" "00305341" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306471" "00305342" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000436596" "00435123" "1" "01543" "01543" "2023-05-17 15:08:37" "" "" "SEQ" "RNA" "Blood" "" "0000436597" "00435124" "1" "01543" "01543" "2023-05-17 15:24:58" "" "" "SEQ" "RNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000000014" "ALG6" "0000000014" "ATP7B" "0000000014" "CFTR" "0000000014" "DPYD" "0000000014" "ETFB" "0000000014" "GLB1" "0000000014" "GNPTAB" "0000000014" "HEXB" "0000000014" "IGHMBP2" "0000000014" "MYO5A" "0000000014" "NHLRC1" "0000000014" "NPHP4" "0000000014" "NPHS1" "0000000014" "PKHD1" "0000000014" "SERPINA1" "0000000014" "SFTPB" "0000000014" "SGSH" "0000000014" "TSFM" "0000436596" "SFTPB" "0000436597" "SFTPB" ## 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 = 18 "{{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}}" "0000000862" "0" "50" "2" "85892908" "85892908" "subst" "0.00174824" "00002" "SFTPB_000001" "g.85892908C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.85665785C>T" "" "VUS" "" "0000298156" "0" "10" "2" "85894308" "85894308" "subst" "0.361549" "02325" "SFTPB_000004" "g.85894308G>T" "" "" "" "SFTPB(NM_000542.5):c.196-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85667185G>T" "" "benign" "" "0000298157" "0" "10" "2" "85893741" "85893741" "subst" "0.495439" "02325" "SFTPB_000003" "g.85893741G>A" "" "" "" "SFTPB(NM_000542.5):c.392C>T (p.T131I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85666618G>A" "" "benign" "" "0000298158" "0" "10" "2" "85895338" "85895338" "subst" "0.410828" "02325" "SFTPB_000005" "g.85895338T>G" "" "" "" "SFTPB(NM_000542.5):c.-32A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85668215T>G" "" "benign" "" "0000298159" "0" "10" "2" "85890771" "85890771" "subst" "0.936608" "02325" "SFTPB_000002" "g.85890771T>G" "" "" "" "SFTPB(NM_000542.5):c.856+16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85663648T>G" "" "benign" "" "0000653212" "1" "10" "2" "85890771" "85890771" "del" "0" "03575" "SFTPB_000006" "g.85890771del" "223/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "223 heterozygous; {DB:CLININrs786205634}" "Germline" "" "rs786205634" "0" "" "" "g.85663648del" "" "benign" "" "0000653238" "1" "10" "2" "85890771" "85890771" "subst" "0.936608" "03575" "SFTPB_000002" "g.85890771T>G" "223/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "223 heterozygous; {DB:CLININrs786205634}" "Germline" "" "rs786205634" "0" "" "" "g.85663648T>G" "" "benign" "" "0000670158" "3" "10" "2" "85890771" "85890771" "del" "0" "03575" "SFTPB_000006" "g.85890771del" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 homozygous; {DB:CLININrs786205634}" "Germline" "" "rs786205634" "0" "" "" "g.85663648del" "" "benign" "" "0000670159" "3" "10" "2" "85890771" "85890771" "subst" "0.936608" "03575" "SFTPB_000002" "g.85890771T>G" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 homozygous; {DB:CLININrs786205634}" "Germline" "" "rs786205634" "0" "" "" "g.85663648T>G" "" "benign" "" "0000719076" "0" "50" "2" "85888606" "85888606" "subst" "0.000798802" "01943" "SFTPB_000007" "g.85888606G>C" "" "" "" "SFTPB(NM_198843.2):c.1172C>G (p.P391R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719077" "0" "30" "2" "85892735" "85892735" "subst" "0.00011071" "01943" "SFTPB_000008" "g.85892735G>A" "" "" "" "SFTPB(NM_198843.2):c.612C>T (p.H204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719078" "0" "90" "2" "85893771" "85893772" "ins" "0.000227459" "01943" "SFTPB_000009" "g.85893771_85893772insTT" "" "" "" "SFTPB(NM_198843.2):c.397_398insAA (p.P133Qfs*95), SFTPB(NM_198843.3):c.361_362insAA (p.P121Qfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719079" "0" "90" "2" "85893771" "85893772" "ins" "0.000227459" "02325" "SFTPB_000009" "g.85893771_85893772insTT" "" "" "" "SFTPB(NM_198843.2):c.397_398insAA (p.P133Qfs*95), SFTPB(NM_198843.3):c.361_362insAA (p.P121Qfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719080" "0" "90" "2" "85893772" "85893772" "subst" "0.000227459" "02325" "SFTPB_000010" "g.85893772G>C" "" "" "" "SFTPB(NM_198843.3):c.361C>G (p.P121A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858714" "0" "30" "2" "85892908" "85892908" "subst" "0.00174824" "01943" "SFTPB_000001" "g.85892908C>T" "" "" "" "SFTPB(NM_198843.2):c.439G>A (p.G147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927630" "0" "90" "2" "85892729" "85892729" "subst" "0" "01543" "SFTPB_000011" "g.85892729C>T" "" "Accepted in European Journal of Human Genetics" "" "" "Alters splicing (mini-gene assay)" "Germline" "yes" "" "0" "" "" "g.85665606C>T" "" "pathogenic" "ACMG" "0000927631" "11" "90" "2" "85892729" "85892729" "subst" "0" "01543" "SFTPB_000011" "g.85892729C>T" "" "Accepted manuscript in European Journal of Human Genetics" "" "" "" "Germline" "yes" "" "0" "" "" "g.85665606C>T" "" "pathogenic" "ACMG" "0001063479" "0" "50" "2" "85888620" "85888620" "subst" "0" "02325" "SFTPB_000012" "g.85888620C>T" "" "" "" "" "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 SFTPB ## Count = 36 "{{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}}" "0000000862" "00000100" "50" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Gly147Ser)" "" "0000000862" "00025835" "50" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Gly147Ser)" "" "0000298156" "00000100" "10" "232" "-8" "232" "-8" "c.232-8C>A" "r.(=)" "p.(=)" "" "0000298156" "00025835" "10" "232" "-8" "232" "-8" "c.232-8C>A" "r.(=)" "p.(=)" "" "0000298157" "00000100" "10" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Thr143Ile)" "" "0000298157" "00025835" "10" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Thr143Ile)" "" "0000298158" "00000100" "10" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(His2Pro)" "" "0000298158" "00025835" "10" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(His2Pro)" "" "0000298159" "00000100" "10" "892" "16" "892" "16" "c.892+16A>C" "r.(=)" "p.(=)" "" "0000298159" "00025835" "10" "892" "16" "892" "16" "c.892+16A>C" "r.(=)" "p.(=)" "" "0000653212" "00000100" "10" "892" "16" "892" "16" "c.892+16del" "r.(=)" "p.(=)" "" "0000653212" "00025835" "10" "892" "16" "892" "16" "c.892+16del" "r.(=)" "p.(=)" "" "0000653238" "00000100" "10" "892" "16" "892" "16" "c.892+16A>C" "r.(=)" "p.(=)" "" "0000653238" "00025835" "10" "892" "16" "892" "16" "c.892+16A>C" "r.(=)" "p.(=)" "" "0000670158" "00000100" "10" "892" "16" "892" "16" "c.892+16del" "r.(=)" "p.(=)" "" "0000670158" "00025835" "10" "892" "16" "892" "16" "c.892+16del" "r.(=)" "p.(=)" "" "0000670159" "00000100" "10" "892" "16" "892" "16" "c.892+16A>C" "r.(=)" "p.(=)" "" "0000670159" "00025835" "10" "892" "16" "892" "16" "c.892+16A>C" "r.(=)" "p.(=)" "" "0000719076" "00000100" "50" "1172" "0" "1172" "0" "c.1172C>G" "r.(?)" "p.(Pro391Arg)" "" "0000719076" "00025835" "50" "1172" "0" "1172" "0" "c.1172C>G" "r.(?)" "p.(Pro391Arg)" "" "0000719077" "00000100" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(His204=)" "" "0000719077" "00025835" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(His204=)" "" "0000719078" "00000100" "90" "397" "0" "398" "0" "c.397_398insAA" "r.(?)" "p.(Pro133Glnfs*95)" "" "0000719078" "00025835" "90" "397" "0" "398" "0" "c.397_398insAA" "r.(?)" "p.(Pro133Glnfs*95)" "" "0000719079" "00000100" "90" "397" "0" "398" "0" "c.397_398insAA" "r.(?)" "p.(Pro133Glnfs*95)" "" "0000719079" "00025835" "90" "397" "0" "398" "0" "c.397_398insAA" "r.(?)" "p.(Pro133Glnfs*95)" "" "0000719080" "00000100" "90" "397" "0" "397" "0" "c.397C>G" "r.(?)" "p.(Pro133Ala)" "" "0000719080" "00025835" "90" "397" "0" "397" "0" "c.397C>G" "r.(?)" "p.(Pro133Ala)" "" "0000858714" "00000100" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Gly147Ser)" "" "0000858714" "00025835" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Gly147Ser)" "" "0000927630" "00000100" "90" "618" "0" "618" "0" "c.618G>A" "r.spl" "p.?" "6" "0000927630" "00025835" "90" "618" "0" "618" "0" "c.618G>A" "r.spl" "p.?" "" "0000927631" "00000100" "90" "618" "0" "618" "0" "c.618G>A" "r.spl" "p.?" "6" "0000927631" "00025835" "90" "618" "0" "618" "0" "c.618G>A" "r.spl" "p.?" "" "0001063479" "00000100" "50" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(=)" "" "0001063479" "00025835" "50" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000014" "0000000862" "0000296523" "0000653212" "0000296549" "0000653238" "0000306470" "0000670158" "0000306471" "0000670159" "0000436596" "0000927630" "0000436597" "0000927631"