### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLAD1) # 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}}" "FLAD1" "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)" "1" "q22" "unknown" "NG_042310.1" "UD_136087062211" "" "https://www.LOVD.nl/FLAD1" "" "1" "24671" "80308" "610595" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FLAD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-19 08:06:38" "00006" "2026-08-28 17:37:52" ## 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}}" "00007993" "FLAD1" "transcript variant 1" "001" "NM_025207.4" "" "NP_079483.3" "" "" "" "-401" "1838" "1764" "154955770" "154965587" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01816" "MADD" "acyl-CoA dehydrogenation deficiency, multiple (MADD)" "AR" "231680" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05592" "LSMFLAD" "myopathy, lipid storage, due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)" "AR" "255100" "" "" "" "00006" "2019-04-16 07:30:24" "00006" "2020-09-16 15:35:54" "07234" "hypotonia" "hypotonia" "" "" "" "" "" "00006" "2026-03-03 15:01:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FLAD1" "05592" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00230572" "" "" "" "1" "" "01261" "{PMID:Muru 2019:31392824}, {DOI:Muru 2019:10.1002/mgg3.915}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Estonia" ">01y03m" "0" "" "" "" "patient" "00230646" "" "" "" "2" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, affectedsister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "Fam1" "00230647" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}, {PMID:Auranen 2017:28433476}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam2" "00230648" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam3" "00230649" "" "" "" "3" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "Fam4" "00230650" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam5" "00230651" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam6" "00230652" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam7" "00230653" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}, {DB:BTHS}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "00y08m" "0" "" "" "" "Pat30" "00296597" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "M" "yes" "Turkey" "8m" "0" "" "" "" "Pat30" "00311076" "" "" "" "1" "" "03791" "{PMID:Lee 2021:34454814}" "" "F" "no" "Korea, South (Republic)" "" "0" "" "riboflavin" "" "patient" "00311085" "" "" "" "1" "" "00006" "{PMID:Ryder 2018:30311138}" "" "M" "" "" "" "0" "" "" "" "patient" "00484145" "" "" "" "1" "" "05026" "" "" "M" "no" "Portugal" "" "0" "" "Yes, riboflavin" "White" "patient" "00484154" "" "" "" "1" "" "00006" "{PMID:Yildiz 2018:30061063}" "2-generation family, affected, brother/sister unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "family" "00484155" "" "" "" "1" "" "00006" "{PMID:Garcia-Villoria 2018:30427553}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "patient" "00484156" "" "" "" "1" "" "00006" "{PMID:Yamada 2019:30982706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "patient" "00484157" "" "" "" "1" "" "00006" "{PMID:Wen 2022:34718578}" "analysis 110 patients with late-onset MADD" "" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00230572" "05592" "00230646" "01816" "00230647" "01816" "00230648" "01816" "00230649" "01816" "00230650" "01816" "00230651" "01816" "00230652" "01816" "00230653" "00244" "00296597" "00198" "00311076" "01816" "00311085" "00198" "00484145" "05592" "00484154" "07234" "00484155" "07234" "00484156" "01816" "00484157" "01816" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01816, 05592, 07234 ## Count = 17 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000173063" "05592" "00230572" "01261" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "LSMFLAD" "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" "" "0000173126" "01816" "00230646" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173127" "01816" "00230647" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173128" "01816" "00230648" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173129" "01816" "00230649" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173130" "01816" "00230650" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173131" "01816" "00230651" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173132" "01816" "00230652" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173133" "00244" "00230653" "00006" "Familial, autosomal recessive" "" "see paper; ..., lipid storage myopathy; 4m-respiratory insufficiency, lipid myopathy, decreased activities of mitochondrial complexes I and IV; 8m-died" "00y04m" "" "" "" "" "" "" "LSMFLAD" "lipid storage myopathy" "" "0000224003" "00198" "00296597" "00006" "Familial, autosomal recessive" "8m" "deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; respiratory insufficiency" "4m" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000236344" "00198" "00311085" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "LSMFLAD" "MCAD deficiency" "" "0000366923" "05592" "00484145" "05026" "Familial, autosomal recessive" "47y" "HP:0030319; HP:0032520; HP:0045085; HP:0005216; HP:0002015; HP:0001260; HP:0000218; HP:0003701; HP:0003327; HP:0003722; HP:0003202" "00y?" "47y" "hypotonia (HP:0001252); dysphagia (HP:0002015)" "" "" "" "" "LSMFLAD (OMIM:255100)" "carnitine deficiency myopathy" "" "0000366933" "07234" "00484154" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2m-hypotonia; feeding difficulties, respiratory distress" "00y02m" "" "" "" "" "" "" "LSMFLAD" "hypotonia" "" "0000366934" "07234" "00484155" "00006" "Familial, autosomal recessive" "00y06m" "see paper; ..., psychomotor delay, loss of gaze fixation,erratic eye movements,, hypotonia, low reaction to sound stimuli, reduced ability to object manipulation; bilateral cataracts" "00y06m" "" "" "" "" "" "" "LSMFLAD" "hypotonia" "" "0000366935" "01816" "00484156" "00006" "Familial, autosomal recessive" "" "see paper; ..., expanded newborn screening VLCAD deficiency/isovaleric acidemia; 3m-vocal cord paralysis, dyspnea with stridor; 4m-bedridden due to hypoxic-ischemic encephalopathy due to fulminant respiratory failure with aspiration pneumonia" "" "" "" "" "" "" "" "LSMFLAD" "" "" "0000366936" "01816" "00311076" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "LSMFLAD" "MADD" "" "0000366937" "01816" "00484157" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "LSMFLAD" "MADD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000231665" "00230572" "1" "01261" "01261" "2019-04-13 19:10:34" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000231742" "00230646" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231743" "00230647" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231744" "00230648" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231745" "00230649" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231746" "00230650" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231747" "00230651" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231748" "00230652" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231749" "00230653" "1" "00006" "00006" "2019-04-19 08:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297707" "00296597" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312228" "00311076" "1" "03791" "03791" "2020-09-16 08:12:24" "" "" "SEQ-NG" "DNA" "" "" "0000312239" "00311085" "1" "00006" "00006" "2020-09-16 15:42:45" "" "" "SEQ" "DNA" "" "" "0000485795" "00484145" "1" "05026" "05026" "2026-08-24 10:11:07" "" "" "MLPA;PCR;PCRq;SEQ-NG-I" "DNA" "blood" "NGS panel v3, 130 genes (93 nuclear, 37 mitochondrial), including FLAD1; Twist Human Core Exome + Human RefSeq and Mitochondrial Panels; Illumina NovaSeq 6000" "0000485803" "00484154" "1" "00006" "00006" "2026-08-28 16:55:33" "" "" "SEQ" "DNA" "" "" "0000485804" "00484155" "1" "00006" "00006" "2026-08-28 17:02:30" "" "" "SEQ" "DNA" "" "" "0000485805" "00484156" "1" "00006" "00006" "2026-08-28 17:14:36" "" "" "SEQ" "DNA" "" "" "0000485806" "00484157" "1" "00006" "00006" "2026-08-28 17:35:53" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000231742" "FLAD1" "0000231743" "FLAD1" "0000231744" "FLAD1" "0000231745" "FLAD1" "0000231746" "FLAD1" "0000231747" "FLAD1" "0000231748" "FLAD1" "0000312228" "FLAD1" "0000312239" "FLAD1" "0000485795" "ACAD8" "0000485795" "ACAD9" "0000485795" "ACADL" "0000485795" "ACADM" "0000485795" "ACADS" "0000485795" "ACADVL" "0000485795" "ALDOA" "0000485795" "AMPD1" "0000485795" "ANO5" "0000485795" "CACNA1S" "0000485795" "CAV3" "0000485795" "CPT1A" "0000485795" "CPT2" "0000485795" "DGUOK" "0000485795" "FLAD1" "0000485803" "FLAD1" "0000485804" "FLAD1" "0000485805" "FLAD1" ## 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 = 33 "{{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}}" "0000321018" "0" "30" "1" "154955879" "154955880" "del" "0" "01804" "FLAD1_000001" "g.154955879_154955880del" "" "" "" "FLAD1(NM_001184891.1):c.-145+3_-145+4del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154983403_154983404del" "" "likely benign" "" "0000321019" "0" "50" "1" "154956533" "154956533" "subst" "2.95215E-5" "01804" "FLAD1_000002" "g.154956533G>T" "" "" "" "FLAD1(NM_001184891.1):c.72G>T (p.(Glu24Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154984057G>T" "" "VUS" "" "0000473736" "21" "90" "1" "154960650" "154960650" "subst" "4.06072E-6" "01261" "FLAD1_000003" "g.154960650C>T" "" "{PMID:Muru 2019:31392824}, {DOI:Muru 2019:10.1002/mgg3.915}" "" "" "" "Germline" "" "" "0" "" "" "g.154988174C>T" "" "pathogenic (recessive)" "" "0000473737" "11" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "01261" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Muru 2019:31392824}, {DOI:Muru 2019:10.1002/mgg3.915}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0000473819" "3" "90" "1" "154962934" "154962936" "del" "0" "00006" "FLAD1_000012" "g.154962934_154962936del" "" "{PMID:Olsen 2016:27259049}" "" "1484_1486delCCT" "" "Germline" "" "" "0" "" "" "g.154990458_154990460del" "" "pathogenic (recessive)" "" "0000473820" "11" "90" "1" "154960776" "154960777" "dup" "0" "00006" "FLAD1_000011" "g.154960776_154960777dup" "" "{PMID:Olsen 2016:27259049}" "" "568_569dupGC" "" "Germline" "" "" "0" "" "" "g.154988300_154988301dup" "" "pathogenic (recessive)" "" "0000473821" "11" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "00006" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Olsen 2016:27259049}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0000473822" "3" "90" "1" "154960734" "154960745" "del" "0" "00006" "FLAD1_000010" "g.154960734_154960745delinsCA" "" "{PMID:Olsen 2016:27259049}" "" "" "" "Germline" "" "" "0" "" "" "g.154988258_154988269delinsCA" "" "pathogenic (recessive)" "" "0000473823" "3" "90" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000009" "g.154960609_154960612del" "" "{PMID:Olsen 2016:27259049}" "" "401_404delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "pathogenic (recessive)" "" "0000473824" "11" "90" "1" "154956494" "154956494" "del" "0" "00006" "FLAD1_000006" "g.154956494del" "" "{PMID:Olsen 2016:27259049}" "" "324delG" "" "Germline" "" "" "0" "" "" "g.154984018del" "" "pathogenic (recessive)" "" "0000473825" "3" "90" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000009" "g.154960609_154960612del" "" "{PMID:Olsen 2016:27259049}" "" "401_404delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "pathogenic (recessive)" "" "0000473826" "3" "70" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000005" "g.154960609_154960612del" "" "{PMID:Taylor 2014:25058219}" "" "397_400delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "likely pathogenic" "" "0000473827" "21" "90" "1" "154960706" "154960706" "del" "0" "00006" "FLAD1_000007" "g.154960706del" "" "{PMID:Olsen 2016:27259049}" "" "498delC" "" "Germline" "" "" "0" "" "" "g.154988230del" "" "pathogenic (recessive)" "" "0000473828" "21" "50" "1" "154960716" "154960716" "subst" "1.62451E-5" "00006" "FLAD1_000008" "g.154960716T>C" "" "{PMID:Olsen 2016:27259049}" "" "Phe170Leu" "" "Germline" "" "" "0" "" "" "g.154988240T>C" "" "VUS" "" "0000473829" "21" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "00006" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Olsen 2016:27259049}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0000473830" "21" "90" "1" "154961044" "154961044" "del" "0" "00006" "FLAD1_000013" "g.154961044del" "" "{PMID:Olsen 2016:27259049}" "" "836delT" "" "Germline" "" "" "0" "" "" "g.154988568del" "" "pathogenic (recessive)" "" "0000660316" "3" "70" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000009" "g.154960609_154960612del" "" "{PMID:Taylor 2014:25058219}" "" "c.397_400 delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "likely pathogenic (recessive)" "" "0000675491" "0" "30" "1" "154962819" "154962819" "subst" "0" "01943" "FLAD1_000016" "g.154962819A>G" "" "" "" "FLAD1(NM_025207.4):c.1369A>G (p.N457D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693785" "3" "90" "1" "154960953" "154960953" "subst" "2.43679E-5" "03791" "FLAD1_000017" "g.154960953C>T" "" "{PMID:Lee 2021:34454814}" "" "" "" "Germline" "" "" "0" "" "" "g.154988477C>T" "" "pathogenic (recessive)" "ACMG" "0000693792" "3" "90" "1" "154960953" "154960953" "subst" "2.43679E-5" "00006" "FLAD1_000017" "g.154960953C>T" "" "{PMID:B.Ryder 2018:30311138}" "" "" "" "Germline" "" "" "0" "" "" "g.154988477C>T" "" "pathogenic (recessive)" "" "0000798809" "0" "30" "1" "154960937" "154960937" "subst" "0.00157569" "02326" "FLAD1_000018" "g.154960937C>T" "" "" "" "FLAD1(NM_025207.5):c.729C>T (p.F243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882809" "0" "30" "1" "154960853" "154960853" "subst" "0.000324897" "02326" "FLAD1_000019" "g.154960853A>G" "" "" "" "FLAD1(NM_025207.5):c.645A>G (p.E215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973354" "0" "50" "1" "154956380" "154956380" "dup" "0" "01804" "CKS1B_000001" "g.154956380dup" "" "" "" "FLAD1(NM_025207.5):c.210dup (p.(Gly71ArgfsTer31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973355" "0" "50" "1" "154960714" "154960714" "subst" "1.21838E-5" "01804" "FLAD1_000020" "g.154960714G>A" "" "" "" "FLAD1(NM_025207.5):c.506G>A (p.(Arg169His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973356" "0" "50" "1" "154965223" "154965223" "subst" "0.000154301" "01804" "FLAD1_000021" "g.154965223G>A" "" "" "" "FLAD1(NM_025207.5):c.1589G>A (p.(Arg530His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031309" "0" "50" "1" "154960995" "154960995" "subst" "0.000239765" "01804" "FLAD1_000022" "g.154960995C>T" "" "" "" "FLAD1(NM_025207.5):c.787C>T (p.(Arg263Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001083796" "3" "90" "1" "154960953" "154960953" "subst" "2.43679E-5" "05026" "FLAD1_000017" "g.154960953C>T" "" "" "" "" "" "Germline" "yes" "rs199979286" "0" "" "" "g.154988477C>T" "801554" "pathogenic (recessive)" "ACMG" "0001083859" "3" "90" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000005" "g.154960609_154960612del" "" "{PMID:Yildiz 2018:30061063}" "" "401_404delTTCT" "" "Germline" "yes" "" "0" "" "" "g.154988133_154988136del" "" "pathogenic (recessive)" "" "0001083860" "1" "90" "1" "154961005" "154961006" "delins" "0" "00006" "FLAD1_000023" "g.154961005_154961006delinsT" "" "{PMID:Garcia-Villoria 2018:30427553}" "" "797_798delAGinsT" "" "Germline" "" "" "0" "" "" "g.154988529_154988530delinsT" "" "pathogenic (recessive)" "" "0001083861" "2" "70" "1" "154965186" "154965186" "subst" "0" "00006" "FLAD1_000024" "g.154965186C>G" "" "{PMID:Garcia-Villoria 2018:30427553}" "" "" "" "Germline" "" "" "0" "" "" "g.154992710C>G" "" "likely pathogenic (recessive)" "" "0001083862" "3" "90" "1" "154960953" "154960953" "subst" "2.43679E-5" "00006" "FLAD1_000017" "g.154960953C>T" "" "{PMID:Yamada 2019:30982706}" "" "" "" "Germline" "" "" "0" "" "" "g.154988477C>T" "" "pathogenic (recessive)" "" "0001083863" "1" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "00006" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Wen 2022:34718578}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0001083864" "2" "90" "1" "154965223" "154965223" "subst" "0" "00006" "FLAD1_000025" "g.154965223G>C" "" "{PMID:Wen 2022:34718578}" "" "" "" "Germline" "" "" "0" "" "" "g.154992747G>C" "" "pathogenic (recessive)" "" ## 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 FLAD1 ## Count = 33 "{{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}}" "0000321018" "00007993" "30" "-292" "0" "-291" "0" "c.-292_-291del" "r.(?)" "p.(=)" "" "0000321019" "00007993" "50" "363" "0" "363" "0" "c.363G>T" "r.(?)" "p.(Glu121Asp)" "" "0000473736" "00007993" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "2" "0000473737" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "6" "0000473819" "00007993" "90" "1484" "0" "1486" "0" "c.1484_1486del" "r.(?)" "p.(Ser495del)" "" "0000473820" "00007993" "90" "568" "0" "569" "0" "c.568_569dup" "r.(?)" "p.(Val191Glnfs*10)" "" "0000473821" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0000473822" "00007993" "90" "526" "0" "537" "0" "c.526_537delinsCA" "r.(?)" "p.(Ala176Glnfs*8)" "" "0000473823" "00007993" "90" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000473824" "00007993" "90" "324" "0" "324" "0" "c.324del" "r.(?)" "p.(Arg109Alafs*3)" "" "0000473825" "00007993" "90" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000473826" "00007993" "70" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000473827" "00007993" "90" "498" "0" "498" "0" "c.498del" "r.(?)" "p.(Ser167Profs*20)" "" "0000473828" "00007993" "50" "508" "0" "508" "0" "c.508T>C" "r.(?)" "p.(Phe170Leu)" "" "0000473829" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0000473830" "00007993" "90" "836" "0" "836" "0" "c.836del" "r.(?)" "p.(Phe279Serfs*45)" "" "0000660316" "00007993" "70" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000675491" "00007993" "30" "1369" "0" "1369" "0" "c.1369A>G" "r.(?)" "p.(Asn457Asp)" "" "0000693785" "00007993" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Ter)" "2" "0000693792" "00007993" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "" "0000798809" "00007993" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Phe243=)" "" "0000882809" "00007993" "30" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Glu215=)" "" "0000973354" "00007993" "50" "210" "0" "210" "0" "c.210dup" "r.(?)" "p.(Gly71Argfs*31)" "" "0000973355" "00007993" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000973356" "00007993" "50" "1589" "0" "1589" "0" "c.1589G>A" "r.(?)" "p.(Arg530His)" "" "0001031309" "00007993" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Trp)" "" "0001083796" "00007993" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Ter)" "" "0001083859" "00007993" "90" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134CysfsTer8)" "" "0001083860" "00007993" "90" "797" "0" "798" "0" "c.797_798delinsT" "r.(?)" "p.(Glu266ValfsTer3)" "" "0001083861" "00007993" "70" "1555" "-3" "1555" "-3" "c.1555-3C>G" "r.spl?" "p.?" "5i" "0001083862" "00007993" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Ter)" "" "0001083863" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0001083864" "00007993" "90" "1589" "0" "1589" "0" "c.1589G>C" "r.(?)" "p.(Arg530Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000231665" "0000473736" "0000231665" "0000473737" "0000231742" "0000473819" "0000231743" "0000473820" "0000231743" "0000473829" "0000231744" "0000473821" "0000231744" "0000473830" "0000231745" "0000473822" "0000231746" "0000473823" "0000231747" "0000473824" "0000231747" "0000473827" "0000231747" "0000473828" "0000231748" "0000473825" "0000231749" "0000473826" "0000297707" "0000660316" "0000312228" "0000693785" "0000312239" "0000693792" "0000485795" "0001083796" "0000485803" "0001083859" "0000485804" "0001083860" "0000485804" "0001083861" "0000485805" "0001083862" "0000485806" "0001083863" "0000485806" "0001083864"