### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAFAH1B1) # 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}}" "PAFAH1B1" "platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)" "17" "p13.3" "unknown" "NC_000017.10" "UD_132118622803" "" "https://www.LOVD.nl/PAFAH1B1" "" "1" "8574" "5048" "601545" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-05 19:16:24" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015599" "PAFAH1B1" "platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)" "001" "NM_000430.3" "" "NP_000421.1" "" "" "" "-568" "5046" "1233" "2496923" "2588909" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00998" "-" "Miller-Dieker lissencephaly syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "02654" "LIS1" "lissencephaly, type 1 (LIS-1)" "AD" "607432" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PAFAH1B1" "00139" "PAFAH1B1" "00998" "PAFAH1B1" "02654" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00291659" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291660" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295401" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295452" "" "" "" "81" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374559" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2769" "00451462" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-041" "00453478" "" "" "" "3" "" "04409" "{PMID:Xiao 2024:39300495}" "" "M" "no" "China" "" "" "" "" "Chinese" "OGM_P4" "00455349" "" "" "" "1" "" "04459" "" "" "M" "" "China" "" "" "" "" "" "" "00461000" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00291659" "00198" "00291660" "00198" "00295401" "00198" "00295452" "00198" "00374559" "00198" "00451462" "02654" "00453478" "04225" "00455349" "02654" "00461000" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00998, 02654, 04225 ## Count = 3 "{{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}}" "0000269769" "00198" "00374559" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000340199" "02654" "00451462" "04221" "Familial, autosomal dominant" "" "Cerebral cortical atrophy, hypsarrhythmia, moderate intellectual disability" "" "" "" "" "" "" "" "" "Lissencephaly 1" "Hyperbeta-alaninemia" "" "0000342141" "04225" "00453478" "04409" "Isolated (sporadic)" "" "The patient is a 6 years and 8 months old boy with global developmental delay and generalized hypotonia. Seizures started at two months of age. Currently, at 7 years of age, he has significant motor limitations, unable to lift his head, sit independently, walk, or speak. Neurological examination shows poor visual tracking and response to sound. Brain MRI shows abnormally wide cerebral gyri with thickening of the cerebral cortex." "" "07y" "" "" "" "" "" "" "Lissencephaly 1" "mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292827" "00291659" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292828" "00291660" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296569" "00295401" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296620" "00295452" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375753" "00374559" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000453063" "00451462" "1" "04221" "04221" "2024-06-06 23:21:14" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000455092" "00453478" "1" "04409" "04409" "2024-09-05 12:07:30" "" "" "OM" "DNA" "whole blood" "" "0000456963" "00455349" "1" "04459" "04459" "2024-10-08 03:23:53" "" "" "SEQ-NG" "DNA" "" "" "0000462632" "00461000" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000375753" "PAFAH1B1" "0000453063" "PAFAH1B1" "0000455092" "PAFAH1B1" "0000456963" "PAFAH1B1" "0000462632" "PAFAH1B1" ## 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 = 62 "{{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}}" "0000253484" "0" "10" "17" "2577375" "2577375" "subst" "0.00326896" "01943" "PAFAH1B1_000027" "g.2577375A>T" "" "" "" "PAFAH1B1(NM_000430.3):c.693A>T (p.T231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2674081A>T" "" "benign" "" "0000253898" "0" "10" "17" "2577344" "2577344" "subst" "0.00431406" "01943" "PAFAH1B1_000014" "g.2577344A>C" "" "" "" "PAFAH1B1(NM_000430.3):c.672-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2674050A>C" "" "benign" "" "0000253899" "0" "10" "17" "2583437" "2583437" "subst" "0.000771605" "01943" "PAFAH1B1_000019" "g.2583437A>G" "" "" "" "PAFAH1B1(NM_000430.3):c.1003-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680143A>G" "" "benign" "" "0000255427" "0" "90" "17" "2573569" "2573569" "subst" "0" "01943" "PAFAH1B1_000010" "g.2573569A>C" "" "" "" "PAFAH1B1(NM_000430.3):c.512A>C (p.D171A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2670275A>C" "" "pathogenic" "" "0000255538" "0" "90" "17" "2541583" "2541583" "subst" "0" "01943" "PAFAH1B1_000001" "g.2541583A>G" "" "" "" "PAFAH1B1(NM_000430.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2638289A>G" "" "pathogenic" "" "0000255716" "0" "90" "17" "2583617" "2583617" "subst" "0" "01943" "PAFAH1B1_000024" "g.2583617A>T" "" "" "" "PAFAH1B1(NM_000430.3):c.1159+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680323A>T" "" "pathogenic" "" "0000296717" "0" "10" "17" "2585113" "2585113" "subst" "0.200075" "02325" "PAFAH1B1_000026" "g.2585113C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.*17C>T, PAFAH1B1(NM_000430.4):c.*17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681819C>T" "" "benign" "" "0000304906" "0" "10" "17" "2585113" "2585113" "subst" "0.200075" "01943" "PAFAH1B1_000026" "g.2585113C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.*17C>T, PAFAH1B1(NM_000430.4):c.*17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681819C>T" "" "benign" "" "0000304907" "0" "90" "17" "2583505" "2583505" "del" "0" "01943" "PAFAH1B1_000020" "g.2583505del" "" "" "" "PAFAH1B1(NM_000430.3):c.1050delG (p.K351Sfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680211del" "" "pathogenic" "" "0000304908" "0" "30" "17" "2583514" "2583514" "subst" "0.000775609" "01943" "PAFAH1B1_000021" "g.2583514T>C" "" "" "" "PAFAH1B1(NM_000430.3):c.1059T>C (p.I353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680220T>C" "" "likely benign" "" "0000304909" "0" "30" "17" "2583565" "2583565" "subst" "0.000430425" "01943" "PAFAH1B1_000022" "g.2583565G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1110G>A (p.K370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680271G>A" "" "likely benign" "" "0000304910" "0" "90" "17" "2583566" "2583566" "subst" "0" "01943" "PAFAH1B1_000023" "g.2583566C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.1111C>T (p.R371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680272C>T" "" "pathogenic" "" "0000304911" "0" "10" "17" "2569296" "2569296" "subst" "0.00138725" "01943" "PAFAH1B1_000003" "g.2569296T>C" "" "" "" "PAFAH1B1(NM_000430.3):c.118-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2666002T>C" "" "benign" "" "0000304912" "0" "50" "17" "2585092" "2585092" "subst" "0" "01943" "PAFAH1B1_000025" "g.2585092G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1229G>A (p.R410H), PAFAH1B1(NM_000430.4):c.1229G>A (p.R410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681798G>A" "" "VUS" "" "0000304914" "0" "90" "17" "2570430" "2570430" "subst" "0" "01943" "PAFAH1B1_000005" "g.2570430C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.337C>T (p.R113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2667136C>T" "" "pathogenic" "" "0000304915" "0" "10" "17" "2570480" "2570480" "subst" "0.000979993" "01943" "PAFAH1B1_000006" "g.2570480T>C" "" "" "" "PAFAH1B1(NM_000430.3):c.387T>C (p.D129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2667186T>C" "" "benign" "" "0000304916" "0" "90" "17" "2573487" "2573487" "subst" "0" "01943" "PAFAH1B1_000007" "g.2573487C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.430C>T (p.R144*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2670193C>T" "" "pathogenic" "" "0000304917" "0" "90" "17" "2573499" "2573499" "subst" "0" "01943" "PAFAH1B1_000008" "g.2573499G>T" "" "" "" "PAFAH1B1(NM_000430.3):c.442G>T (p.G148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2670205G>T" "" "pathogenic" "" "0000304918" "0" "10" "17" "2573531" "2573531" "subst" "0.00145783" "01943" "PAFAH1B1_000009" "g.2573531C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.474C>T (p.F158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2670237C>T" "" "benign" "" "0000304919" "0" "10" "17" "2573652" "2573652" "subst" "0.917724" "01943" "PAFAH1B1_000011" "g.2573652C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.568+27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2670358C>T" "" "benign" "" "0000304921" "0" "90" "17" "2576035" "2576035" "subst" "0" "01943" "PAFAH1B1_000013" "g.2576035T>G" "" "" "" "PAFAH1B1(NM_000430.3):c.655T>G (p.W219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2672741T>G" "" "pathogenic" "" "0000304922" "0" "90" "17" "2577381" "2577382" "del" "0" "01943" "PAFAH1B1_000015" "g.2577381_2577382del" "" "" "" "PAFAH1B1(NM_000430.3):c.699_700delCA (p.H233Qfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2674087_2674088del" "" "pathogenic" "" "0000304923" "0" "90" "17" "2577465" "2577465" "subst" "0" "01943" "PAFAH1B1_000017" "g.2577465G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.783G>A (p.W261*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2674171G>A" "" "pathogenic" "" "0000304924" "0" "90" "17" "2577583" "2577583" "subst" "0" "01943" "PAFAH1B1_000018" "g.2577583G>C" "" "" "" "PAFAH1B1(NM_000430.3):c.900+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2674289G>C" "" "pathogenic" "" "0000325104" "0" "50" "17" "2568692" "2568692" "subst" "0" "01804" "PAFAH1B1_000002" "g.2568692G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.59G>A (p.(Arg20His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2665398G>A" "" "VUS" "" "0000560690" "0" "90" "17" "2568695" "2568695" "subst" "0" "01943" "PAFAH1B1_000028" "g.2568695C>A" "" "" "" "PAFAH1B1(NM_000430.3):c.62C>A (p.S21*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2665401C>A" "" "pathogenic" "" "0000560691" "0" "50" "17" "2568750" "2568752" "del" "0" "02327" "PAFAH1B1_000029" "g.2568750_2568752del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2665456_2665458del" "" "VUS" "" "0000560692" "0" "90" "17" "2570427" "2570427" "dup" "0" "01943" "PAFAH1B1_000030" "g.2570427dup" "" "" "" "PAFAH1B1(NM_000430.3):c.334dupA (p.T112Nfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2667133dup" "" "pathogenic" "" "0000560693" "0" "90" "17" "2573473" "2573473" "del" "0" "01943" "PAFAH1B1_000031" "g.2573473del" "" "" "" "PAFAH1B1(NM_000430.3):c.416delC (p.T139Mfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2670179del" "" "pathogenic" "" "0000560695" "0" "90" "17" "2575939" "2575940" "ins" "0" "01943" "PAFAH1B1_000033" "g.2575939_2575940insTAA" "" "" "" "PAFAH1B1(NM_000430.3):c.569-9_569-8insAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2672645_2672646insTAA" "" "pathogenic" "" "0000560696" "0" "90" "17" "2577362" "2577363" "del" "0" "01943" "PAFAH1B1_000034" "g.2577362_2577363del" "" "" "" "PAFAH1B1(NM_000430.3):c.679_680delCA (p.V227Efs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2674068_2674069del" "" "pathogenic" "" "0000560697" "0" "90" "17" "2577511" "2577513" "del" "0" "01943" "PAFAH1B1_000035" "g.2577511_2577513del" "" "" "" "PAFAH1B1(NM_000430.3):c.829_831delCAT (p.H277del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2674217_2674219del" "" "pathogenic" "" "0000649516" "1" "90" "17" "2568663" "2568663" "subst" "0" "03575" "PAFAH1B1_000037" "g.2568663C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784260}" "Germline" "" "rs587784260" "0" "" "" "g.2665369C>T" "" "pathogenic" "" "0000649517" "1" "70" "17" "2569313" "2569313" "subst" "0" "03575" "PAFAH1B1_000038" "g.2569313G>A" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784250}" "Germline" "" "rs587784250" "0" "" "" "g.2666019G>A" "" "likely pathogenic" "" "0000653258" "1" "90" "17" "2569354" "2569354" "del" "0" "03575" "PAFAH1B1_000039" "g.2569354del" "5/2689 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs113994198}" "Germline" "" "rs113994198" "0" "" "" "g.2666060del" "" "pathogenic" "" "0000653309" "1" "90" "17" "2577397" "2577397" "dup" "0" "03575" "PAFAH1B1_000040" "g.2577397dup" "81/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "81 heterozygous, no homozygous; {DB:CLININrs587784284}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs587784284" "0" "" "" "g.2674104dup" "" "pathogenic" "" "0000658064" "0" "30" "17" "2573633" "2573633" "subst" "0" "01804" "PAFAH1B1_000041" "g.2573633G>C" "" "" "" "PAFAH1B1(NM_000430.3):c.568+8G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2670339G>C" "" "likely benign" "" "0000658065" "0" "50" "17" "2583590" "2583590" "subst" "0" "01943" "PAFAH1B1_000042" "g.2583590C>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1135C>A (p.H379N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2680296C>A" "" "VUS" "" "0000726240" "0" "50" "17" "2579838" "2579838" "subst" "0" "01943" "PAFAH1B1_000043" "g.2579838G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.940G>A (p.G314R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787104" "0" "90" "17" "2541583" "2585096" "del" "0" "00006" "PAFAH1B1_000044" "g.(?_2541583)_(2585096_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr17:2541583-?_2585096+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000854784" "0" "50" "17" "2568663" "2568663" "subst" "0" "01943" "PAFAH1B1_000037" "g.2568663C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.33-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854785" "0" "30" "17" "2579900" "2579900" "subst" "0.000328969" "01943" "PAFAH1B1_000046" "g.2579900C>T" "" "" "" "PAFAH1B1(NM_000430.3):c.1002C>T (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865116" "0" "30" "17" "2577592" "2577592" "subst" "4.08223E-5" "01943" "PAFAH1B1_000045" "g.2577592A>G" "" "" "" "PAFAH1B1(NM_000430.3):c.900+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893395" "0" "90" "17" "2575939" "2575939" "subst" "0" "02327" "PAFAH1B1_000047" "g.2575939T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893396" "0" "50" "17" "2585092" "2585092" "subst" "0" "02325" "PAFAH1B1_000025" "g.2585092G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1229G>A (p.R410H), PAFAH1B1(NM_000430.4):c.1229G>A (p.R410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982373" "0" "50" "17" "2585037" "2585037" "subst" "8.13094E-6" "01804" "PAFAH1B1_000048" "g.2585037G>A" "" "" "" "PAFAH1B1(NM_000430.4):c.1174G>A (p.(Ala392Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987571" "0" "90" "17" "2568749" "2568752" "dup" "0" "04221" "PAFAH1B1_000049" "g.2568749_2568752dup" "" "" "" "" "" "Germline" "yes" "rs2151659410" "0" "" "" "g.2665455_2665458dup" "{CV:1373706}" "pathogenic (dominant)" "ACMG" "0001003039" "0" "50" "17" "2576041" "2576041" "subst" "4.06478E-6" "01804" "PAFAH1B1_000050" "g.2576041G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.661G>A (p.(Val221Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003040" "0" "50" "17" "2577566" "2577566" "subst" "0" "01804" "PAFAH1B1_000051" "g.2577566A>G" "" "" "" "PAFAH1B1(NM_000430.3):c.884A>G (p.(Glu295Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003041" "0" "50" "17" "2583532" "2583532" "subst" "0" "01804" "PAFAH1B1_000052" "g.2583532C>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1077C>A (p.(Asp359Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003042" "0" "50" "17" "2583545" "2583545" "subst" "8.1215E-6" "01804" "PAFAH1B1_000053" "g.2583545G>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1090G>A (p.(Val364Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003043" "0" "30" "17" "2585071" "2585071" "subst" "0" "01804" "PAFAH1B1_000054" "g.2585071C>A" "" "" "" "PAFAH1B1(NM_000430.3):c.1208C>A (p.(Thr403Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007094" "0" "90" "17" "2562666" "2572102" "dup" "0" "04409" "PAFAH1B1_000055" "g.(?_2562666)_(2572102_?)dup" "" "{PMID:Xiao 2024:39300495}" "" "" "" "De novo" "yes" "" "0" "" "" "g.(?_2659373)_(2668808_?)dup" "" "pathogenic (dominant)" "ACMG" "0001011394" "1" "90" "17" "2562761" "3581978" "inv" "0" "04459" "PAFAH1B1_000056" "g.2562761_3581978inv" "" "" "" "2562761_3581978inv" "" "De novo" "" "" "0" "" "" "g.2659467_3678684inv" "" "pathogenic (dominant)" "" "0001015484" "0" "50" "17" "2575961" "2575961" "subst" "0" "02325" "PAFAH1B1_000057" "g.2575961A>G" "" "" "" "PAFAH1B1(NM_000430.4):c.581A>G (p.N194S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022159" "0" "70" "17" "2568663" "2568663" "subst" "0" "04796" "PAFAH1B1_000037" "g.2568663C>T" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.2665369C>T" "" "likely pathogenic" "" "0001041694" "0" "30" "17" "2554585" "2554585" "subst" "0" "01804" "PAFAH1B1_000058" "g.2554585T>G" "" "" "" "PAFAH1B1(NM_000430.4):c.32+12971T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041695" "0" "30" "17" "2562493" "2562493" "subst" "0" "01804" "PAFAH1B1_000059" "g.2562493C>T" "" "" "" "PAFAH1B1(NM_000430.4):c.33-6173C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041696" "0" "30" "17" "2562835" "2562835" "del" "0" "01804" "PAFAH1B1_000060" "g.2562835del" "" "" "" "PAFAH1B1(NM_000430.4):c.33-5831del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041697" "0" "50" "17" "2568744" "2568744" "subst" "0" "01804" "PAFAH1B1_000061" "g.2568744A>C" "" "" "" "PAFAH1B1(NM_000430.4):c.111A>C (p.(Leu37Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041698" "0" "30" "17" "2576954" "2576954" "subst" "0" "01804" "PAFAH1B1_000062" "g.2576954A>C" "" "" "" "PAFAH1B1(NM_000430.4):c.672-400A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041699" "0" "50" "17" "2579853" "2579853" "subst" "0" "01804" "PAFAH1B1_000063" "g.2579853A>G" "" "" "" "PAFAH1B1(NM_000430.4):c.955A>G (p.(Thr319Ala))" "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 PAFAH1B1 ## Count = 62 "{{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}}" "0000253484" "00015599" "10" "693" "0" "693" "0" "c.693A>T" "r.(?)" "p.(Thr231=)" "" "0000253898" "00015599" "10" "672" "-10" "672" "-10" "c.672-10A>C" "r.(=)" "p.(=)" "" "0000253899" "00015599" "10" "1003" "-21" "1003" "-21" "c.1003-21A>G" "r.(=)" "p.(=)" "" "0000255427" "00015599" "90" "512" "0" "512" "0" "c.512A>C" "r.(?)" "p.(Asp171Ala)" "" "0000255538" "00015599" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000255716" "00015599" "90" "1159" "3" "1159" "3" "c.1159+3A>T" "r.spl?" "p.?" "" "0000296717" "00015599" "10" "1250" "0" "1250" "0" "c.*17C>T" "r.(=)" "p.(=)" "" "0000304906" "00015599" "10" "1250" "0" "1250" "0" "c.*17C>T" "r.(=)" "p.(=)" "" "0000304907" "00015599" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Lys351SerfsTer4)" "" "0000304908" "00015599" "30" "1059" "0" "1059" "0" "c.1059T>C" "r.(?)" "p.(Ile353=)" "" "0000304909" "00015599" "30" "1110" "0" "1110" "0" "c.1110G>A" "r.(?)" "p.(Lys370=)" "" "0000304910" "00015599" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0000304911" "00015599" "10" "118" "-14" "118" "-14" "c.118-14T>C" "r.(=)" "p.(=)" "" "0000304912" "00015599" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410His)" "" "0000304914" "00015599" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0000304915" "00015599" "10" "387" "0" "387" "0" "c.387T>C" "r.(?)" "p.(Asp129=)" "" "0000304916" "00015599" "90" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Ter)" "" "0000304917" "00015599" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Gly148Ter)" "" "0000304918" "00015599" "10" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(Phe158=)" "" "0000304919" "00015599" "10" "568" "27" "568" "27" "c.568+27C>T" "r.(=)" "p.(=)" "" "0000304921" "00015599" "90" "655" "0" "655" "0" "c.655T>G" "r.(?)" "p.(Trp219Gly)" "" "0000304922" "00015599" "90" "699" "0" "700" "0" "c.699_700del" "r.(?)" "p.(His233GlnfsTer22)" "" "0000304923" "00015599" "90" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Trp261Ter)" "" "0000304924" "00015599" "90" "900" "1" "900" "1" "c.900+1G>C" "r.spl?" "p.?" "" "0000325104" "00015599" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000560690" "00015599" "90" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Ser21Ter)" "" "0000560691" "00015599" "50" "117" "0" "117" "2" "c.117_117+2del" "r.spl?" "p.?" "" "0000560692" "00015599" "90" "334" "0" "334" "0" "c.334dup" "r.(?)" "p.(Thr112AsnfsTer22)" "" "0000560693" "00015599" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Thr139MetfsTer34)" "" "0000560695" "00015599" "90" "569" "-10" "569" "-9" "c.569-10_569-9insTAA" "r.(=)" "p.(=)" "" "0000560696" "00015599" "90" "680" "0" "681" "0" "c.680_681del" "r.(?)" "p.(Val227GlufsTer28)" "" "0000560697" "00015599" "90" "829" "0" "831" "0" "c.829_831del" "r.(?)" "p.(His277del)" "" "0000649516" "00015599" "90" "33" "-3" "33" "-3" "c.33-3C>T" "r.spl?" "p.?" "" "0000649517" "00015599" "70" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000653258" "00015599" "90" "162" "0" "162" "0" "c.162del" "r.(?)" "p.(Lys54Asnfs*15)" "" "0000653309" "00015599" "90" "715" "0" "715" "0" "c.715dup" "r.(?)" "p.(Met239Asnfs*17)" "" "0000658064" "00015599" "30" "568" "8" "568" "8" "c.568+8G>C" "r.(=)" "p.(=)" "" "0000658065" "00015599" "50" "1135" "0" "1135" "0" "c.1135C>A" "r.(?)" "p.(His379Asn)" "" "0000726240" "00015599" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Arg)" "" "0000787104" "00015599" "90" "-1" "0" "1234" "0" "c.(?_-1)_(*1_?)del" "r.?" "p.?" "1i_11_" "0000854784" "00015599" "50" "33" "-3" "33" "-3" "c.33-3C>T" "r.spl?" "p.?" "" "0000854785" "00015599" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0000865116" "00015599" "30" "900" "10" "900" "10" "c.900+10A>G" "r.(=)" "p.(=)" "" "0000893395" "00015599" "90" "569" "-10" "569" "-10" "c.569-10T>C" "r.(=)" "p.(=)" "" "0000893396" "00015599" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410His)" "" "0000982373" "00015599" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "" "0000987571" "00015599" "90" "116" "0" "117" "2" "c.116_117+2dup" "r.spl" "p.?" "" "0001003039" "00015599" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Val221Met)" "" "0001003040" "00015599" "50" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Glu295Gly)" "" "0001003041" "00015599" "50" "1077" "0" "1077" "0" "c.1077C>A" "r.(?)" "p.(Asp359Glu)" "" "0001003042" "00015599" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Ile)" "" "0001003043" "00015599" "30" "1208" "0" "1208" "0" "c.1208C>A" "r.(?)" "p.(Thr403Lys)" "" "0001007094" "00015599" "90" "33" "-6000" "400" "-1355" "c.(?_33-6000)_(400-1355_?)dup" "r.(33_399dup)" "p.(Val134Lysfs*14)" "2i_5i" "0001011394" "00015599" "90" "33" "-5905" "998115" "0" "c.33-5905_*996882inv" "r.?" "p.?" "" "0001015484" "00015599" "50" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Asn194Ser)" "" "0001022159" "00015599" "70" "33" "-3" "33" "-3" "c.33-3C>T" "r.[33_117del,=]" "p.[Asn12MetfsTer4,=]" "2i" "0001041694" "00015599" "30" "32" "12971" "32" "12971" "c.32+12971T>G" "r.(=)" "p.(=)" "" "0001041695" "00015599" "30" "33" "-6173" "33" "-6173" "c.33-6173C>T" "r.(=)" "p.(=)" "" "0001041696" "00015599" "30" "33" "-5831" "33" "-5831" "c.33-5831del" "r.(=)" "p.(=)" "" "0001041697" "00015599" "50" "111" "0" "111" "0" "c.111A>C" "r.(?)" "p.(Leu37Phe)" "" "0001041698" "00015599" "30" "672" "-400" "672" "-400" "c.672-400A>C" "r.(=)" "p.(=)" "" "0001041699" "00015599" "50" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Thr319Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000292827" "0000649516" "0000292828" "0000649517" "0000296569" "0000653258" "0000296620" "0000653309" "0000375753" "0000787104" "0000453063" "0000987571" "0000455092" "0001007094" "0000456963" "0001011394" "0000462632" "0001022159"