### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCA3) # 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}}" "ABCA3" "ATP-binding cassette, sub-family A (ABC1), member 3" "16" "p13.3" "unknown" "NG_011790.1" "UD_132085251079" "" "http://www.LOVD.nl/ABCA3" "" "1" "33" "21" "601615" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ABCA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-20 15:53:19" "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}}" "00001846" "ABCA3" "ATP-binding cassette, sub-family A (ABC1), member 3" "001" "NM_001089.2" "" "NP_001080.2" "" "" "" "-712" "5911" "5115" "2390747" "2325879" "" "0000-00-00 00:00:00" "" "" ## 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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "02991" "SMDP2" "surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2)" "AD" "610913" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02993" "SMDP3" "surfactant metabolism dysfunction, pulmonary, type 3 (SMDP-3)" "AR" "610921" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABCA3" "02993" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00029672" "" "" "" "1" "" "01214" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat1, asymptomatic heterozygous carrier parent" "F" "" "Italy" "" "0" "" "" "white" "" "00029824" "" "" "" "0" "" "01228" "" "" "M" "no" "Italy" "00y06m" "0" "yes" "n/a" "white" "" "00081017" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00291423" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291424" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291431" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291432" "" "" "" "97" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291433" "" "" "" "51" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305948" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "47" "00446543" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "" "M" "" "China" "" "0" "" "" "" "Fam156Pat417" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00029672" "02991" "00029824" "02993" "00081017" "02993" "00291423" "00198" "00291424" "00198" "00291431" "00198" "00291432" "00198" "00291433" "00198" "00305948" "02993" "00446543" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 02991, 02993 ## Count = 5 "{{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}}" "0000025769" "02991" "00029672" "01214" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000025873" "02993" "00029824" "01228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060586" "02993" "00081017" "01758" "Familial, autosomal recessive" "" "Surfactant metabolism dysfunction, pulmonary, 3 (OMIM:610921)" "" "" "" "" "" "" "" "" "" "" "" "0000231797" "02993" "00305948" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000335750" "00296" "00446543" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029714" "00029672" "1" "01214" "01214" "2015-01-26 16:15:36" "" "" "SEQ" "DNA" "" "" "0000029867" "00029824" "1" "01228" "01228" "2015-02-10 06:10:33" "" "" "SEQ" "DNA" "" "" "0000081129" "00081017" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000292591" "00291423" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292592" "00291424" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292599" "00291431" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292600" "00291432" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292601" "00291433" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307079" "00305948" "1" "03695" "03695" "2020-07-06 01:29:29" "" "" "SEQ-NG" "DNA" "" "" "0000448116" "00446543" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000029714" "SFTPC" "0000029867" "ABCA3" "0000081129" "ABCA3" "0000307079" "ABCA3" ## 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 = 56 "{{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}}" "0000055959" "21" "30" "16" "2354054" "2354054" "subst" "4.46955E-5" "01228" "ABCA3_000001" "g.2354054C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2304053C>T" "" "likely benign" "" "0000130215" "3" "70" "16" "2373533" "2373533" "subst" "1.62429E-5" "01758" "ABCA3_000002" "g.2373533C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.2323532C>T" "" "likely pathogenic" "ACMG" "0000150760" "0" "50" "16" "2354054" "2354054" "subst" "4.46955E-5" "00006" "ABCA3_000001" "g.2354054C>T" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Germline" "" "" "0" "" "" "g.2304053C>T" "" "VUS" "" "0000248681" "0" "10" "16" "2331430" "2331430" "subst" "0.923058" "02325" "ABCA3_000004" "g.2331430A>G" "" "" "" "ABCA3(NM_001089.3):c.4116T>C (p.S1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2281429A>G" "" "benign" "" "0000260419" "0" "10" "16" "2348528" "2348528" "subst" "0.141979" "02326" "ABCA3_000005" "g.2348528G>C" "" "" "" "ABCA3(NM_001089.2):c.1755C>G (p.P585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2298527G>C" "" "benign" "" "0000260420" "0" "30" "16" "2329071" "2329071" "subst" "0.00432342" "02326" "ABCA3_000003" "g.2329071G>A" "" "" "" "ABCA3(NM_001089.2):c.4420C>T (p.R1474W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2279070G>A" "" "likely benign" "" "0000557524" "0" "50" "16" "2327918" "2327918" "subst" "0" "01943" "ABCA3_000007" "g.2327918A>G" "" "" "" "ABCA3(NM_001089.2):c.4871T>C (p.L1624P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2277917A>G" "" "VUS" "" "0000557525" "0" "30" "16" "2329071" "2329071" "subst" "0.00432342" "01943" "ABCA3_000003" "g.2329071G>A" "" "" "" "ABCA3(NM_001089.2):c.4420C>T (p.R1474W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2279070G>A" "" "likely benign" "" "0000557526" "0" "30" "16" "2335642" "2335642" "subst" "6.0889E-5" "01943" "ABCA3_000008" "g.2335642C>T" "" "" "" "ABCA3(NM_001089.2):c.3284G>A (p.R1095Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2285641C>T" "" "likely benign" "" "0000557529" "0" "30" "16" "2342194" "2342194" "subst" "2.03047E-5" "01943" "ABCA3_000009" "g.2342194C>T" "" "" "" "ABCA3(NM_001089.2):c.2460G>A (p.L820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2292193C>T" "" "likely benign" "" "0000557532" "0" "50" "16" "2345616" "2345616" "subst" "0" "01943" "ABCA3_000010" "g.2345616T>G" "" "" "" "ABCA3(NM_001089.2):c.2389A>C (p.I797L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2295615T>G" "" "VUS" "" "0000557533" "0" "30" "16" "2345737" "2345737" "subst" "0.00179133" "01943" "ABCA3_000011" "g.2345737G>A" "" "" "" "ABCA3(NM_001089.2):c.2268C>T (p.A756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2295736G>A" "" "likely benign" "" "0000557651" "0" "30" "16" "2374459" "2374459" "subst" "0.000948633" "01943" "ABCA3_000012" "g.2374459G>A" "" "" "" "ABCA3(NM_001089.2):c.393C>T (p.A131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2324458G>A" "" "likely benign" "" "0000557652" "0" "50" "16" "2376170" "2376170" "subst" "0.000840889" "01943" "ABCA3_000013" "g.2376170C>T" "" "" "" "ABCA3(NM_001089.2):c.160G>A (p.A54T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2326169C>T" "" "VUS" "" "0000615869" "0" "50" "16" "2331230" "2331230" "subst" "0.00825885" "01943" "ABCA3_000014" "g.2331230C>T" "" "" "" "ABCA3(NM_001089.2):c.4165-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2281229C>T" "" "VUS" "" "0000615870" "0" "30" "16" "2335647" "2335647" "subst" "0.000548952" "01943" "ABCA3_000016" "g.2335647C>T" "" "" "" "ABCA3(NM_001089.2):c.3279G>A (p.E1093=), ABCA3(NM_001089.3):c.3279G>A (p.E1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2285646C>T" "" "likely benign" "" "0000615871" "0" "30" "16" "2345696" "2345696" "subst" "0.00141476" "01943" "ABCA3_000017" "g.2345696G>A" "" "" "" "ABCA3(NM_001089.2):c.2309C>T (p.P770L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2295695G>A" "" "likely benign" "" "0000623420" "0" "30" "16" "2335553" "2335553" "subst" "0.000119903" "01943" "ABCA3_000015" "g.2335553C>T" "" "" "" "ABCA3(NM_001089.2):c.3373G>A (p.V1125M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2285552C>T" "" "likely benign" "" "0000623430" "0" "50" "16" "2367334" "2367334" "subst" "0" "01943" "ABCA3_000018" "g.2367334G>A" "" "" "" "ABCA3(NM_001089.2):c.1061C>T (p.A354V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2317333G>A" "" "VUS" "" "0000649280" "1" "30" "16" "2329071" "2329071" "subst" "0.00432342" "03575" "ABCA3_000003" "g.2329071G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs146709251}" "Germline" "" "rs146709251" "0" "" "" "g.2279070G>A" "" "likely benign" "" "0000649281" "1" "50" "16" "2334358" "2334358" "subst" "0.000990927" "03575" "ABCA3_000019" "g.2334358T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs35089233}" "Germline" "" "rs35089233" "0" "" "" "g.2284357T>C" "" "VUS" "" "0000649288" "1" "70" "16" "2367764" "2367764" "subst" "0.00230272" "03575" "ABCA3_000020" "g.2367764T>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149989682}" "Germline" "" "rs149989682" "0" "" "" "g.2317763T>A" "" "likely pathogenic" "" "0000649289" "1" "30" "16" "2369774" "2369774" "subst" "0.0187238" "03575" "ABCA3_000021" "g.2369774G>A" "97/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "97 heterozygous, no homozygous; {DB:CLININrs45480502}" "Germline" "" "rs45480502" "0" "" "" "g.2319773G>A" "" "likely benign" "" "0000649290" "1" "30" "16" "2374394" "2374394" "subst" "0.0182021" "03575" "ABCA3_000022" "g.2374394G>A" "51/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "51 heterozygous, no homozygous; {DB:CLININrs117031141}" "Germline" "" "rs117031141" "0" "" "" "g.2324393G>A" "" "likely benign" "" "0000657790" "0" "30" "16" "2334358" "2334358" "subst" "0.000990927" "01804" "ABCA3_000019" "g.2334358T>C" "" "" "" "ABCA3(NM_001089.2):c.3784A>G (p.S1262G, p.(Ser1262Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2284357T>C" "" "likely benign" "" "0000657793" "0" "30" "16" "2354042" "2354042" "subst" "4.06339E-6" "01943" "ABCA3_000023" "g.2354042C>T" "" "" "" "ABCA3(NM_001089.2):c.1395G>A (p.L465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2304041C>T" "" "likely benign" "" "0000673629" "2" "70" "16" "2334343" "2334343" "subst" "0" "03695" "ABCA3_000024" "g.2334343T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673630" "2" "90" "16" "2376203" "2376203" "subst" "4.06289E-6" "03695" "ABCA3_000025" "g.2376203G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000680501" "0" "70" "16" "2367764" "2367764" "subst" "0.00230272" "02325" "ABCA3_000020" "g.2367764T>A" "" "" "" "ABCA3(NM_001089.2):c.875A>T (p.E292V), ABCA3(NM_001089.3):c.875A>T (p.(Glu292Val), p.E292V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692026" "0" "70" "16" "2367756" "2367756" "subst" "1.21969E-5" "01943" "ABCA3_000026" "g.2367756G>A" "" "" "" "ABCA3(NM_001089.2):c.883C>T (p.R295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725656" "0" "30" "16" "2328078" "2328078" "subst" "0" "01943" "ABCA3_000027" "g.2328078G>A" "" "" "" "ABCA3(NM_001089.2):c.4719-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807239" "0" "30" "16" "2338133" "2338133" "subst" "7.85786E-5" "01943" "ABCA3_000028" "g.2338133G>A" "" "" "" "ABCA3(NM_001089.2):c.2898C>T (p.T966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807246" "0" "50" "16" "2345684" "2345684" "subst" "0.000341425" "01943" "ABCA3_000029" "g.2345684G>A" "" "" "" "ABCA3(NM_001089.2):c.2321C>T (p.S774F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807247" "0" "50" "16" "2354139" "2354139" "subst" "1.6312E-5" "01943" "ABCA3_000030" "g.2354139T>C" "" "" "" "ABCA3(NM_001089.2):c.1298A>G (p.Q433R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807287" "0" "30" "16" "2367685" "2367685" "subst" "0.000365494" "01943" "ABCA3_000031" "g.2367685G>A" "" "" "" "ABCA3(NM_001089.2):c.954C>T (p.I318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807288" "0" "50" "16" "2367764" "2367764" "subst" "0.00230272" "01943" "ABCA3_000020" "g.2367764T>A" "" "" "" "ABCA3(NM_001089.2):c.875A>T (p.E292V), ABCA3(NM_001089.3):c.875A>T (p.(Glu292Val), p.E292V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807289" "0" "30" "16" "2376239" "2376239" "subst" "0" "01943" "ABCA3_000032" "g.2376239G>A" "" "" "" "ABCA3(NM_001089.2):c.91C>T (p.L31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807290" "0" "30" "16" "2376240" "2376240" "subst" "0" "01943" "ABCA3_000033" "g.2376240G>T" "" "" "" "ABCA3(NM_001089.2):c.90C>A (p.F30L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854402" "0" "30" "16" "2336871" "2336871" "subst" "0" "01943" "ABCA3_000035" "g.2336871C>T" "" "" "" "ABCA3(NM_001089.2):c.3102G>A (p.E1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854405" "0" "50" "16" "2347446" "2347446" "subst" "4.06151E-6" "01943" "ABCA3_000036" "g.2347446A>G" "" "" "" "ABCA3(NM_001089.2):c.2147T>C (p.I716T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854436" "0" "50" "16" "2367386" "2367386" "subst" "2.44014E-5" "01943" "ABCA3_000037" "g.2367386C>T" "" "" "" "ABCA3(NM_001089.2):c.1009G>A (p.V337M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854437" "0" "50" "16" "2369821" "2369821" "subst" "0.00136974" "01943" "ABCA3_000038" "g.2369821G>T" "" "" "" "ABCA3(NM_001089.2):c.634C>A (p.L212M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864673" "0" "50" "16" "2329098" "2329098" "subst" "0.000122358" "01943" "ABCA3_000034" "g.2329098C>T" "" "" "" "ABCA3(NM_001089.2):c.4393G>A (p.D1465N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864674" "0" "50" "16" "2334358" "2334358" "subst" "0.000990927" "01943" "ABCA3_000019" "g.2334358T>C" "" "" "" "ABCA3(NM_001089.2):c.3784A>G (p.S1262G, p.(Ser1262Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864675" "0" "30" "16" "2335647" "2335647" "subst" "0.000548952" "02325" "ABCA3_000016" "g.2335647C>T" "" "" "" "ABCA3(NM_001089.2):c.3279G>A (p.E1093=), ABCA3(NM_001089.3):c.3279G>A (p.E1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864726" "0" "10" "16" "2374394" "2374394" "subst" "0.0182021" "01943" "ABCA3_000022" "g.2374394G>A" "" "" "" "ABCA3(NM_001089.2):c.447+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892808" "0" "50" "16" "2334965" "2334965" "subst" "5.29484E-5" "02325" "ABCA3_000039" "g.2334965G>A" "" "" "" "ABCA3(NM_001089.3):c.3518C>T (p.T1173M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892815" "0" "50" "16" "2345709" "2345709" "subst" "0.00169946" "02325" "ABCA3_000040" "g.2345709G>A" "" "" "" "ABCA3(NM_001089.3):c.2296C>T (p.(Pro766Ser), p.P766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957496" "0" "50" "16" "2329098" "2329098" "subst" "0.000122358" "00006" "ABCA3_000034" "g.2329098C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "rs201955122" "0" "" "" "g.2279097C>T" "rs201955122" "VUS" "" "0000968255" "0" "90" "16" "2333224" "2333225" "del" "0" "02325" "ABCA3_000041" "g.2333224_2333225del" "" "" "" "ABCA3(NM_001089.3):c.3997_3998delAG (p.R1333Gfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002087" "0" "50" "16" "2338209" "2338217" "del" "0" "01804" "ABCA3_000042" "g.2338209_2338217del" "" "" "" "ABCA3(NM_001089.2):c.2821_2829delCTCCTGGCC (p.(Leu941_Ala943del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002090" "0" "50" "16" "2347886" "2347886" "subst" "0" "01804" "ABCA3_000043" "g.2347886C>T" "" "" "" "ABCA3(NM_001089.2):c.1933G>A (p.(Val645Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002120" "0" "30" "16" "2374440" "2374440" "subst" "3.81692E-5" "01804" "ABCA3_000044" "g.2374440G>T" "" "" "" "ABCA3(NM_001089.2):c.412C>A (p.(Pro138Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040967" "0" "50" "16" "2345709" "2345709" "subst" "0.00169946" "01804" "ABCA3_000040" "g.2345709G>A" "" "" "" "ABCA3(NM_001089.3):c.2296C>T (p.(Pro766Ser), p.P766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040983" "0" "90" "16" "2367764" "2367764" "subst" "0.00230272" "01804" "ABCA3_000020" "g.2367764T>A" "" "" "" "ABCA3(NM_001089.2):c.875A>T (p.E292V), ABCA3(NM_001089.3):c.875A>T (p.(Glu292Val), p.E292V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040985" "0" "30" "16" "2378444" "2378444" "subst" "0.00374166" "01804" "ABCA3_000047" "g.2378444A>T" "" "" "" "ABCA3(NM_001089.3):c.-27+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ABCA3 ## Count = 56 "{{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}}" "0000055959" "00001846" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(=)" "p.(=)" "12" "0000130215" "00001846" "70" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "" "0000150760" "00001846" "50" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Val461=)" "12" "0000248681" "00001846" "10" "4116" "0" "4116" "0" "c.4116=" "r.(=)" "p.(Ser1372=)" "" "0000260419" "00001846" "10" "1755" "0" "1755" "0" "c.1755C>G" "r.(?)" "p.(Pro585=)" "" "0000260420" "00001846" "30" "4420" "0" "4420" "0" "c.4420C>T" "r.(?)" "p.(Arg1474Trp)" "" "0000557524" "00001846" "50" "4871" "0" "4871" "0" "c.4871T>C" "r.(?)" "p.(Leu1624Pro)" "" "0000557525" "00001846" "30" "4420" "0" "4420" "0" "c.4420C>T" "r.(?)" "p.(Arg1474Trp)" "" "0000557526" "00001846" "30" "3284" "0" "3284" "0" "c.3284G>A" "r.(?)" "p.(Arg1095Gln)" "" "0000557529" "00001846" "30" "2460" "0" "2460" "0" "c.2460G>A" "r.(?)" "p.(Leu820=)" "" "0000557532" "00001846" "50" "2389" "0" "2389" "0" "c.2389A>C" "r.(?)" "p.(Ile797Leu)" "" "0000557533" "00001846" "30" "2268" "0" "2268" "0" "c.2268C>T" "r.(?)" "p.(Ala756=)" "" "0000557651" "00001846" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Ala131=)" "" "0000557652" "00001846" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Ala54Thr)" "" "0000615869" "00001846" "50" "4165" "-8" "4165" "-8" "c.4165-8G>A" "r.(=)" "p.(=)" "" "0000615870" "00001846" "30" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Glu1093=)" "" "0000615871" "00001846" "30" "2309" "0" "2309" "0" "c.2309C>T" "r.(?)" "p.(Pro770Leu)" "" "0000623420" "00001846" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Val1125Met)" "" "0000623430" "00001846" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ala354Val)" "" "0000649280" "00001846" "30" "4420" "0" "4420" "0" "c.4420C>T" "r.(?)" "p.(Arg1474Trp)" "" "0000649281" "00001846" "50" "3784" "0" "3784" "0" "c.3784A>G" "r.(?)" "p.(Ser1262Gly)" "" "0000649288" "00001846" "70" "875" "0" "875" "0" "c.875A>T" "r.(?)" "p.(Glu292Val)" "" "0000649289" "00001846" "30" "681" "0" "681" "0" "c.681C>T" "r.(=)" "p.(=)" "" "0000649290" "00001846" "30" "447" "11" "447" "11" "c.447+11C>T" "r.(=)" "p.(=)" "" "0000657790" "00001846" "30" "3784" "0" "3784" "0" "c.3784A>G" "r.(?)" "p.(Ser1262Gly)" "" "0000657793" "00001846" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Leu465=)" "" "0000673629" "00001846" "70" "3799" "0" "3799" "0" "c.3799A>G" "r.(?)" "p.(Asn1267Asp)" "" "0000673630" "00001846" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "" "0000680501" "00001846" "70" "875" "0" "875" "0" "c.875A>T" "r.(?)" "p.(Glu292Val)" "" "0000692026" "00001846" "70" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "" "0000725656" "00001846" "30" "4719" "-8" "4719" "-8" "c.4719-8C>T" "r.(=)" "p.(=)" "" "0000807239" "00001846" "30" "2898" "0" "2898" "0" "c.2898C>T" "r.(?)" "p.(Thr966=)" "" "0000807246" "00001846" "50" "2321" "0" "2321" "0" "c.2321C>T" "r.(?)" "p.(Ser774Phe)" "" "0000807247" "00001846" "50" "1298" "0" "1298" "0" "c.1298A>G" "r.(?)" "p.(Gln433Arg)" "" "0000807287" "00001846" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Ile318=)" "" "0000807288" "00001846" "50" "875" "0" "875" "0" "c.875A>T" "r.(?)" "p.(Glu292Val)" "" "0000807289" "00001846" "30" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Leu31=)" "" "0000807290" "00001846" "30" "90" "0" "90" "0" "c.90C>A" "r.(?)" "p.(Phe30Leu)" "" "0000854402" "00001846" "30" "3102" "0" "3102" "0" "c.3102G>A" "r.(?)" "p.(Glu1034=)" "" "0000854405" "00001846" "50" "2147" "0" "2147" "0" "c.2147T>C" "r.(?)" "p.(Ile716Thr)" "" "0000854436" "00001846" "50" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Val337Met)" "" "0000854437" "00001846" "50" "634" "0" "634" "0" "c.634C>A" "r.(?)" "p.(Leu212Met)" "" "0000864673" "00001846" "50" "4393" "0" "4393" "0" "c.4393G>A" "r.(?)" "p.(Asp1465Asn)" "" "0000864674" "00001846" "50" "3784" "0" "3784" "0" "c.3784A>G" "r.(?)" "p.(Ser1262Gly)" "" "0000864675" "00001846" "30" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Glu1093=)" "" "0000864726" "00001846" "10" "447" "11" "447" "11" "c.447+11C>T" "r.(=)" "p.(=)" "" "0000892808" "00001846" "50" "3518" "0" "3518" "0" "c.3518C>T" "r.(?)" "p.(Thr1173Met)" "" "0000892815" "00001846" "50" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Pro766Ser)" "" "0000957496" "00001846" "50" "4393" "0" "4393" "0" "c.4393G>A" "r.(?)" "p.(Asp1465Asn)" "29" "0000968255" "00001846" "90" "3997" "0" "3998" "0" "c.3997_3998del" "r.(?)" "p.(Arg1333Glyfs*24)" "" "0001002087" "00001846" "50" "2821" "0" "2829" "0" "c.2821_2829del" "r.(?)" "p.(Leu941_Ala943del)" "" "0001002090" "00001846" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Val645Ile)" "" "0001002120" "00001846" "30" "412" "0" "412" "0" "c.412C>A" "r.(?)" "p.(Pro138Thr)" "" "0001040967" "00001846" "50" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Pro766Ser)" "" "0001040983" "00001846" "90" "875" "0" "875" "0" "c.875A>T" "r.(?)" "p.(Glu292Val)" "" "0001040985" "00001846" "30" "-27" "10" "-27" "10" "c.-27+10T>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000029714" "0000150760" "0000029867" "0000055959" "0000081129" "0000130215" "0000292591" "0000649280" "0000292592" "0000649281" "0000292599" "0000649288" "0000292600" "0000649289" "0000292601" "0000649290" "0000307079" "0000673629" "0000307079" "0000673630" "0000448116" "0000957496"