### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LFNG) # 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}}" "LFNG" "LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase" "7" "p22.3" "unknown" "NG_008109.2" "UD_132118952745" "" "https://www.LOVD.nl/LFNG" "" "1" "6560" "3955" "602576" "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/LFNG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-19 17:32:34" "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}}" "00025778" "LFNG" "transcript variant 1" "004" "NM_001040167.1" "" "NP_001035257.1" "" "" "" "-17" "2357" "1140" "2559479" "2568063" "00006" "2022-12-19 16:58:46" "" "" ## 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}}" "02878" "SCDO3" "dysostosis, spondylocostal, autosomal recessive, type 3 (SCDO-3)" "AR" "609813" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04278" "SCDO" "dysostosis, spondylocostal (SCDO)" "" "" "" "" "" "00006" "2015-05-29 16:25:47" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LFNG" "02878" "LFNG" "04278" ## 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}}" "00331505" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "15DG0700" "00427959" "" "" "" "1" "" "03559" "" "" "F" "no" "Algeria" "00y01m" "" "" "" "" "" "00427960" "" "" "" "1" "" "03559" "" "" "F" "no" "Italy" "" "" "" "" "" "" "00427961" "" "" "" "1" "" "03559" "" "" "F" "yes" "Morocco" "" "" "" "" "" "" "00428040" "" "" "" "1" "" "00006" "{PMID:Sparrow 2006:16385447}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Lebanon" "" "0" "" "" "" "patient" "00428041" "" "" "" "1" "" "00006" "{PMID:Otomo 2019:30531807}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00431334" "" "" "" "1" "" "04464" "" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Costa Rica" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00331505" "05517" "00427959" "02878" "00427960" "02878" "00427961" "02878" "00428040" "04278" "00428041" "04278" "00431334" "02878" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02878, 04278, 05517 ## Count = 7 "{{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}}" "0000249697" "05517" "00331505" "00000" "Familial, autosomal recessive" "" "Atlantoaxial abnormality, Abnormality of the vertebral column, Hemivertebrae, Butterfly No" "" "" "" "" "" "" "" "Dysostoses with predominant vertebral with/without costal involvement" "skeletal dysplasia" "0000318904" "02878" "00427959" "03559" "Familial, autosomal recessive" "00y01m" "Polyhydramnios HP:0001561\r\nRespiratory distress HP:0002098\r\nKyphoscoliosis HP:0002751\r\nRib fusion HP:0000902\r\nHemivertebrae HP:0002937\r\nThoracic dysplasia HP:0006644\r\nPulmonary hypoplasia HP:0002089\r\nAbsent/hypoplastic coccyx HP:0008436" "0" "0" "prenatal" "Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe" "" "" "" "Spondylocostal dysostosis 3" "skeletal dysplasia" "0000318905" "02878" "00427960" "03559" "Familial, autosomal recessive" "0" "Respiratory distress HP:0002098\r\nHemivertebrae HP:0002937\r\nVertebral fusion HP:0002948" "0" "0" "0" "Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe" "" "" "" "Spondylocostal dysostosis 3" "skeletal dysplasia" "0000318906" "02878" "00427961" "03559" "Familial, autosomal recessive" "0" "Spinal dysraphism HP:0010301\r\nHemivertebrae HP:0002937\r\nRib fusion HP:0000902\r\nShort stature HP:0004322\r\nPectus carinatum HP:0000768\r\nButterfly vertebrae HP:0003316\r\nPulmonary hypoplasia HP:0002089" "0" "0" "0" "Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe" "" "" "" "Spondylocostal dysostosis 3" "skeletal dysplasia" "0000318986" "04278" "00428040" "00006" "Familial, autosomal recessive" "" "long, slender fingers, camptodactyly left index finger; multiple vertebral ossification centers thoracic spine showing fitted angular shapes; severe foreshortening spine; non-progressive scoliosis cervical/thoracic spine; vertebral anomalies cervical/lumbar spine" "" "" "" "" "" "" "" "SCDO3" "congenital vertebral anomalies" "0000318987" "04278" "00428041" "00006" "Familial, autosomal recessive" "00y09m" "spinal deformity; height SD−2.5; multiple vertebral anomalies, cervical to sacral vertebrae, defect/fusion of ribs; no scoliosis, no dysplasia of tubular bones; no respiratory problem, no hand abnormalities; inguinal herniation" "" "" "" "" "" "" "" "SCDO3" "spondylocostal dysostosis" "0000321934" "02878" "00431334" "04464" "Familial, autosomal recessive" "" "Short stature (10th to 25th %), vertebral segmental defects and rib fusions (9 right ribs and 10 left), left 38-degree scoliosis at L1/S1, 44-degree lordosis at L1/S1, and 32-degree kyphosis at T2/T12." "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000332724" "00331505" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429372" "00427959" "1" "03559" "03559" "2022-12-17 16:34:51" "" "" "SEQ-NG" "DNA" "blood" "" "0000429373" "00427960" "1" "03559" "03559" "2022-12-17 16:58:32" "" "" "SEQ-NG" "DNA" "amniotic fluid" "" "0000429374" "00427961" "1" "03559" "03559" "2022-12-17 17:08:31" "" "" "SEQ-NG" "DNA" "amniotic fluid" "" "0000429453" "00428040" "1" "00006" "00006" "2022-12-19 17:43:09" "" "" "SEQ" "DNA" "" "" "0000429454" "00428041" "1" "00006" "00006" "2022-12-19 17:50:24" "" "" "SEQ" "DNA" "" "" "0000432746" "00431334" "1" "04464" "04464" "2023-02-08 23:40:32" "" "" "?" "RNA" "" "" "0000432747" "00431334" "1" "04464" "04464" "2023-02-08 23:59:46" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000332724" "LFNG" "0000429453" "LFNG" "0000429454" "LFNG" "0000432746" "LFNG" "0000432747" "LFNG" ## 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 = 39 "{{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}}" "0000290966" "0" "10" "7" "2552906" "2552909" "del" "0" "01943" "LFNG_000002" "g.2552906_2552909del" "" "" "" "LFNG(NM_001166355.1):c.139_142del (p.(Asp55SerfsTer141)), LFNG(NM_001166355.1):c.163_166delGATG (p.D55Sfs*141)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2513272_2513275del" "" "benign" "" "0000331379" "0" "30" "7" "2552906" "2552909" "dup" "0" "01804" "LFNG_000003" "g.2552906_2552909dup" "" "" "" "LFNG(NM_001166355.1):c.139_142dup (p.(Glu56Glyfs*2)), LFNG(NM_001166355.1):c.163_166dupGATG (p.E56Gfs*2), LFNG(NM_001166355.2):c.163_166dupGATG (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2513272_2513275dup" "" "likely benign" "" "0000331380" "0" "50" "7" "2568516" "2568516" "del" "0" "01804" "LFNG_000006" "g.2568516del" "" "" "" "LFNG(NM_001040168.1):c.1080del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2528882del" "" "VUS" "" "0000531727" "0" "30" "7" "2552906" "2552909" "del" "0" "01804" "LFNG_000002" "g.2552906_2552909del" "" "" "" "LFNG(NM_001166355.1):c.139_142del (p.(Asp55SerfsTer141)), LFNG(NM_001166355.1):c.163_166delGATG (p.D55Sfs*141)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2513272_2513275del" "" "likely benign" "" "0000531728" "0" "30" "7" "2552906" "2552909" "dup" "0" "01943" "LFNG_000008" "g.2552906_2552909dup" "" "" "" "LFNG(NM_001166355.1):c.139_142dup (p.(Glu56Glyfs*2)), LFNG(NM_001166355.1):c.163_166dupGATG (p.E56Gfs*2), LFNG(NM_001166355.2):c.163_166dupGATG (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2513272_2513275dup" "" "likely benign" "" "0000531729" "0" "10" "7" "2552906" "2552909" "dup" "0" "02325" "LFNG_000008" "g.2552906_2552909dup" "" "" "" "LFNG(NM_001166355.1):c.139_142dup (p.(Glu56Glyfs*2)), LFNG(NM_001166355.1):c.163_166dupGATG (p.E56Gfs*2), LFNG(NM_001166355.2):c.163_166dupGATG (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2513272_2513275dup" "" "benign" "" "0000531732" "0" "30" "7" "2564849" "2564849" "subst" "0.0258009" "01804" "LFNG_000010" "g.2564849A>G" "" "" "" "LFNG(NM_001040167.1):c.482-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2525215A>G" "" "likely benign" "" "0000531733" "0" "30" "7" "2565127" "2565127" "subst" "2.47372E-5" "01943" "LFNG_000011" "g.2565127C>T" "" "" "" "LFNG(NM_001040167.2):c.661C>T (p.R221W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2525493C>T" "" "likely benign" "" "0000531734" "0" "30" "7" "2565133" "2565133" "subst" "0.00108517" "01804" "LFNG_000012" "g.2565133G>A" "" "" "" "LFNG(NM_001040167.1):c.667G>A (p.(Val223Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2525499G>A" "" "likely benign" "" "0000531735" "0" "30" "7" "2566503" "2566503" "subst" "0.000351115" "01943" "LFNG_000013" "g.2566503C>T" "" "" "" "LFNG(NM_001040167.1):c.1021C>T (p.(Arg341Trp)), LFNG(NM_001040167.2):c.1021C>T (p.R341W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2526869C>T" "" "likely benign" "" "0000531736" "0" "30" "7" "2566807" "2566807" "subst" "2.44876E-5" "01943" "LFNG_000014" "g.2566807C>T" "" "" "" "LFNG(NM_001040167.2):c.1101C>T (p.Y367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2527173C>T" "" "likely benign" "" "0000611022" "0" "30" "7" "2558214" "2558214" "subst" "0.00173267" "01943" "LFNG_000015" "g.2558214G>T" "" "" "" "LFNG(NM_002304.2):c.27G>T (p.A9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2518580G>T" "" "likely benign" "" "0000689979" "0" "50" "7" "2552902" "2552909" "dup" "0" "01943" "LFNG_000016" "g.2552902_2552909dup" "" "" "" "LFNG(NM_001166355.1):c.159_166dupGATGGATG (p.E56Gfs*144), LFNG(NM_001166355.2):c.159_166dup (p.(Glu56GlyfsTer144)), LFNG(NM_001166355.2):c.159_166d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721413" "0" "30" "7" "2559843" "2559843" "subst" "0" "01943" "LFNG_000017" "g.2559843C>T" "" "" "" "LFNG(NM_001040167.2):c.348C>T (p.F116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721414" "0" "30" "7" "2565210" "2565210" "subst" "0.000413257" "01943" "LFNG_000018" "g.2565210C>T" "" "" "" "LFNG(NM_001040167.2):c.735+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721415" "0" "30" "7" "2566518" "2566518" "subst" "0.00149333" "01804" "LFNG_000020" "g.2566518G>A" "" "" "" "LFNG(NM_001040167.1):c.1036G>A (p.(Val346Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730006" "3" "90" "7" "2565344" "2565344" "subst" "0" "00000" "LFNG_000019" "g.2565344C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001040167.1:c.761C>T:p.(Thr254Met)" "" "Germline" "" "" "0" "" "" "g.2525710C>T" "" "likely pathogenic (recessive)" "" "0000803110" "0" "70" "7" "2565898" "2565898" "subst" "6.92244E-5" "01804" "LFNG_000021" "g.2565898C>T" "" "" "" "LFNG(NM_001040167.1):c.842C>T (p.(Thr281Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851576" "0" "30" "7" "2552806" "2552806" "subst" "0.00426897" "01804" "LFNG_000022" "g.2552806G>C" "" "" "" "LFNG(NM_001166355.1):c.63G>C (p.(Trp21Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860727" "0" "30" "7" "2564944" "2564944" "subst" "0.000412413" "01943" "LFNG_000023" "g.2564944C>T" "" "" "" "LFNG(NM_001040167.2):c.573C>T (p.S191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860728" "0" "30" "7" "2566503" "2566503" "subst" "0.000351115" "01804" "LFNG_000013" "g.2566503C>T" "" "" "" "LFNG(NM_001040167.1):c.1021C>T (p.(Arg341Trp)), LFNG(NM_001040167.2):c.1021C>T (p.R341W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887829" "0" "30" "7" "2565139" "2565139" "subst" "7.42599E-5" "01804" "LFNG_000024" "g.2565139G>A" "" "" "" "LFNG(NM_001040167.1):c.673G>A (p.(Val225Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908839" "21" "90" "7" "2565919" "2565919" "dup" "0" "03559" "LFNG_000027" "g.2565919dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2526285dup" "" "pathogenic (maternal)" "ACMG" "0000908840" "11" "70" "7" "2566545" "2566545" "subst" "8.18686E-6" "03559" "LFNG_000029" "g.2566545G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2526911G>A" "" "VUS" "ACMG" "0000908841" "11" "70" "7" "2564892" "2564892" "subst" "0" "03559" "LFNG_000025" "g.2564892G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2525258G>T" "" "VUS" "ACMG" "0000908842" "21" "70" "7" "2565946" "2565946" "subst" "0" "03559" "LFNG_000028" "g.2565946T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2526312T>G" "" "VUS" "ACMG" "0000908843" "3" "90" "7" "2565873" "2565873" "subst" "5.30201E-5" "03559" "LFNG_000026" "g.2565873C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2526239C>T" "" "VUS" "ACMG" "0000908947" "3" "90" "7" "2564935" "2564935" "subst" "0" "00006" "LFNG_000030" "g.2564935C>A" "" "{PMID:Sparrow 2006:16385447}" "" "" "" "Germline" "" "" "0" "" "" "g.2525301C>A" "" "pathogenic (recessive)" "" "0000908948" "21" "90" "7" "2559867" "2559867" "del" "0" "00006" "LFNG_000031" "g.2559867del" "" "{PMID:Otomo 2019:30531807}" "" "372delG" "" "Germline" "" "" "0" "" "" "g.2520233del" "" "pathogenic (recessive)" "" "0000908949" "11" "90" "7" "2565067" "2565067" "subst" "0" "00006" "LFNG_000032" "g.2565067G>A" "" "{PMID:Otomo 2019:30531807}" "" "" "" "Germline" "" "" "0" "" "" "g.2525433G>A" "" "pathogenic (recessive)" "" "0000912727" "0" "30" "7" "2566818" "2566818" "subst" "0" "01804" "LFNG_000033" "g.2566818C>T" "" "" "" "LFNG(NM_001040167.1):c.1112C>T (p.(Pro371Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918327" "21" "90" "7" "2565349" "2565349" "subst" "0" "04464" "LFNG_000035" "g.2565349G>A" "" "" "parker_wengryn" "" "amorphic variant, loss of glycosyltransferase activity" "Germline" "" "" "0" "" "" "g.2525715G>A" "" "likely pathogenic (recessive)" "" "0000918328" "11" "90" "7" "2564892" "2564892" "subst" "1.63179E-5" "04464" "LFNG_000034" "g.2564892G>A" "" "" "parker_wengryn" "" "hypomorphic variant, pathogenic when in trans with c.766G>A" "Germline" "" "" "0" "" "" "g.2525258G>A" "" "likely pathogenic (!)" "" "0000929329" "0" "50" "7" "2552835" "2552835" "subst" "0" "01804" "LFNG_000036" "g.2552835G>A" "" "" "" "LFNG(NM_001166355.1):c.92G>A (p.(Trp31Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977662" "0" "50" "7" "2552899" "2552900" "ins" "0" "01804" "LFNG_000037" "g.2552899_2552900insCGGA" "" "" "" "LFNG(NM_001166355.2):c.156_157insCGGA (p.(Trp53Argfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977663" "0" "50" "7" "2552902" "2552909" "dup" "0" "01804" "LFNG_000016" "g.2552902_2552909dup" "" "" "" "LFNG(NM_001166355.1):c.159_166dupGATGGATG (p.E56Gfs*144), LFNG(NM_001166355.2):c.159_166dup (p.(Glu56GlyfsTer144)), LFNG(NM_001166355.2):c.159_166d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025382" "0" "50" "7" "2552902" "2552909" "dup" "0" "02325" "LFNG_000016" "g.2552902_2552909dup" "" "" "" "LFNG(NM_001166355.1):c.159_166dupGATGGATG (p.E56Gfs*144), LFNG(NM_001166355.2):c.159_166dup (p.(Glu56GlyfsTer144)), LFNG(NM_001166355.2):c.159_166d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052570" "0" "50" "7" "2565320" "2565320" "subst" "2.44473E-5" "01804" "LFNG_000038" "g.2565320G>A" "" "" "" "LFNG(NM_001040167.2):c.737G>A (p.(Arg246His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052571" "0" "50" "7" "2566784" "2566784" "subst" "2.86266E-5" "01804" "MIR4648_000001" "g.2566784C>T" "" "" "" "LFNG(NM_001040167.2):c.1078C>T (p.(Arg360Cys))" "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 LFNG ## Count = 39 "{{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}}" "0000290966" "00025778" "10" "-6590" "0" "-6587" "0" "c.-6590_-6587del" "r.(?)" "p.(=)" "" "0000331379" "00025778" "30" "-6590" "0" "-6587" "0" "c.-6590_-6587dup" "r.(?)" "p.(=)" "" "0000331380" "00025778" "50" "2810" "0" "2810" "0" "c.*1670del" "r.(?)" "p.(=)" "" "0000531727" "00025778" "30" "-6590" "0" "-6587" "0" "c.-6590_-6587del" "r.(?)" "p.(=)" "" "0000531728" "00025778" "30" "-6590" "0" "-6587" "0" "c.-6590_-6587dup" "r.(?)" "p.(=)" "" "0000531729" "00025778" "10" "-6590" "0" "-6587" "0" "c.-6590_-6587dup" "r.(?)" "p.(=)" "" "0000531732" "00025778" "30" "482" "-4" "482" "-4" "c.482-4A>G" "r.spl?" "p.?" "" "0000531733" "00025778" "30" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Trp)" "" "0000531734" "00025778" "30" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Val223Ile)" "" "0000531735" "00025778" "30" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341Trp)" "" "0000531736" "00025778" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Tyr367=)" "" "0000611022" "00025778" "30" "-1282" "0" "-1282" "0" "c.-1282G>T" "r.(?)" "p.(=)" "" "0000689979" "00025778" "50" "-6594" "0" "-6587" "0" "c.-6594_-6587dup" "r.(?)" "p.(=)" "" "0000721413" "00025778" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Phe116=)" "" "0000721414" "00025778" "30" "735" "9" "735" "9" "c.735+9C>T" "r.(=)" "p.(=)" "" "0000721415" "00025778" "30" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Val346Met)" "" "0000730006" "00025778" "90" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Thr254Met)" "" "0000803110" "00025778" "70" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Thr281Met)" "" "0000851576" "00025778" "30" "-6690" "0" "-6690" "0" "c.-6690G>C" "r.(?)" "p.(=)" "" "0000860727" "00025778" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Ser191=)" "" "0000860728" "00025778" "30" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341Trp)" "" "0000887829" "00025778" "30" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Ile)" "" "0000908839" "00025778" "90" "863" "0" "863" "0" "c.863dup" "r.(?)" "p.(Asp289*)" "" "0000908840" "00025778" "70" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Asp355Asn)" "" "0000908841" "00025778" "70" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Arg174Leu)" "" "0000908842" "00025778" "70" "890" "0" "890" "0" "c.890T>G" "r.(?)" "p.(Val297Gly)" "" "0000908843" "00025778" "90" "822" "-5" "822" "-5" "c.822-5C>T" "r.spl" "p.?" "" "0000908947" "00025778" "90" "564" "0" "564" "0" "c.564C>A" "r.(?)" "p.(Phe188Leu)" "" "0000908948" "00025778" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys124Asnfs*21)" "" "0000908949" "00025778" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "" "0000912727" "00025778" "30" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Pro371Leu)" "" "0000918327" "00025778" "90" "766" "0" "766" "0" "c.766G>A" "r.(766g>a)" "p.(Gly256Ser)" "5" "0000918328" "00025778" "90" "521" "0" "521" "0" "c.521G>A" "r.(521g>a)" "p.(Arg174His)" "3" "0000929329" "00025778" "50" "-6661" "0" "-6661" "0" "c.-6661G>A" "r.(?)" "p.(=)" "" "0000977662" "00025778" "50" "-6597" "0" "-6596" "0" "c.-6597_-6596insCGGA" "r.(?)" "p.(=)" "" "0000977663" "00025778" "50" "-6594" "0" "-6587" "0" "c.-6594_-6587dup" "r.(?)" "p.(=)" "" "0001025382" "00025778" "50" "-6594" "0" "-6587" "0" "c.-6594_-6587dup" "r.(?)" "p.(=)" "" "0001052570" "00025778" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246His)" "" "0001052571" "00025778" "50" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000332724" "0000730006" "0000429372" "0000908839" "0000429372" "0000908840" "0000429373" "0000908841" "0000429373" "0000908842" "0000429374" "0000908843" "0000429453" "0000908947" "0000429454" "0000908948" "0000429454" "0000908949" "0000432746" "0000918327" "0000432747" "0000918328"