### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPLA2) # 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}}" "PNPLA2" "patatin-like phospholipase domain containing 2" "11" "p15.5" "unknown" "NG_023394.1" "UD_132119037269" "" "https://www.LOVD.nl/PNPLA2" "" "1" "30802" "57104" "609059" "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/PNPLA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-14 18:35:18" "00006" "2025-01-22 12:28:35" ## 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}}" "00016449" "PNPLA2" "patatin-like phospholipase domain containing 2" "001" "NM_020376.3" "" "NP_065109.1" "" "" "" "-203" "2226" "1515" "818901" "825573" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02974" "NLSDM" "lipid, neutral, storage disease with myopathy (NLSDM)" "AR" "610717" "" "" "" "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}}" "PNPLA2" "02974" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00036537" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00208766" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00290554" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324477" "" "" "" "1" "" "00006" "{PMID:Avila-Smirnow 2020:33303358}" "2-generation family, 1 affected unaffected heterozygous carrier parents" "F" "yes" "Chile" "" "0" "" "" "" "patient" "00460266" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, family history" "" "" "Spain" "" "0" "" "" "" "Pat37" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00290554" "00198" "00324477" "00198" "00460266" "01273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01273, 02974 ## 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}}" "0000157384" "00198" "00208766" "01164" "Unknown" "" "HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000243020" "00198" "00324477" "00006" "Familial, autosomal recessive" "00y38m" "see paper; ..., congenital hypotonia, mother polyhydramnios during pregnancy, delayed acquisition of motor milestones, hepatomegaly, elevated creatine kinase levels, lipid accumulation muscle fibers, Jordans’ anomaly blood smear" "" "" "" "" "" "" "" "" "NLSDM" "congenital hypotonia" "" "0000347995" "01273" "00460266" "00006" "Unknown" "0y-9y" "asymptomatic, hyperCKemia; elevated CK level 1000-2300 UI/L; lipids drops; MRI muscle normal; EMG normal" "" "" "" "IHC normal sarcolemma immunostaining" "" "" "" "" "" "asymptomatic, hyperCKemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036607" "00036537" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000209815" "00208766" "1" "01164" "01164" "2018-12-14 14:05:53" "" "" "SEQ-NG" "DNA" "" "" "0000291722" "00290554" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325668" "00324477" "1" "00006" "00006" "2020-12-14 18:41:51" "" "" "SEQ" "DNA" "" "" "0000461897" "00460266" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000036607" "PNPLA2" "0000325668" "PNPLA2" ## 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 = 48 "{{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}}" "0000063732" "1" "50" "11" "823577" "823577" "subst" "4.18722E-5" "01164" "PNPLA2_000001" "g.823577G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.823577G>A" "" "VUS" "" "0000249160" "0" "10" "11" "822622" "822622" "subst" "0.53966" "02325" "PNPLA2_000003" "g.822622A>G" "" "" "" "PNPLA2(NM_020376.4):c.696+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.822622A>G" "" "benign" "" "0000297196" "0" "10" "11" "824789" "824789" "subst" "0.671666" "02325" "PNPLA2_000007" "g.824789T>C" "" "" "" "PNPLA2(NM_020376.4):c.1442T>C (p.L481P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.824789T>C" "" "benign" "" "0000301092" "0" "30" "11" "821676" "821676" "subst" "0.000666732" "02326" "PNPLA2_000002" "g.821676G>A" "" "" "" "PNPLA2(NM_020376.3):c.236G>A (p.R79Q, p.(Arg79Gln)), PNPLA2(NM_020376.4):c.236G>A (p.R79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.821676G>A" "" "likely benign" "" "0000301093" "0" "30" "11" "823586" "823586" "subst" "0.00899473" "02326" "PNPLA2_000004" "g.823586C>G" "" "" "" "PNPLA2(NM_020376.4):c.756C>G (p.N252K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.823586C>G" "" "likely benign" "" "0000301094" "0" "30" "11" "823729" "823729" "subst" "0.0160035" "02326" "PNPLA2_000005" "g.823729C>T" "" "" "" "PNPLA2(NM_020376.4):c.793C>T (p.(Pro265Ser), p.P265S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.823729C>T" "" "likely benign" "" "0000301095" "0" "30" "11" "823859" "823859" "subst" "0.00459075" "02326" "PNPLA2_000006" "g.823859C>T" "" "" "" "PNPLA2(NM_020376.3):c.919+4C>T (p.?), PNPLA2(NM_020376.4):c.919+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.823859C>T" "" "likely benign" "" "0000338813" "0" "10" "11" "822622" "822622" "subst" "0.53966" "02327" "PNPLA2_000003" "g.822622A>G" "" "" "" "PNPLA2(NM_020376.4):c.696+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.822622A>G" "" "benign" "" "0000340487" "0" "10" "11" "823809" "823809" "subst" "0.273359" "02327" "PNPLA2_000009" "g.823809C>G" "" "" "" "PNPLA2(NM_020376.4):c.873C>G (p.P291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.823809C>G" "" "benign" "" "0000340488" "0" "10" "11" "824805" "824805" "subst" "0.183671" "02327" "PNPLA2_000010" "g.824805C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.824805C>T" "" "benign" "" "0000347191" "0" "10" "11" "824789" "824789" "subst" "0.671666" "02327" "PNPLA2_000007" "g.824789T>C" "" "" "" "PNPLA2(NM_020376.4):c.1442T>C (p.L481P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.824789T>C" "" "benign" "" "0000351383" "0" "30" "11" "823603" "823603" "subst" "0.000736859" "02327" "PNPLA2_000008" "g.823603C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.823603C>T" "" "likely benign" "" "0000440034" "0" "50" "11" "824543" "824543" "subst" "0" "01164" "PNPLA2_000011" "g.824543T>G" "" "" "" "c.1196_1200delinsGGCGG p.(Leu399Arg) het" "" "Germline" "" "" "0" "" "" "g.824543T>G" "" "VUS" "ACMG" "0000440035" "0" "50" "11" "824547" "824547" "subst" "0" "01164" "PNPLA2_000012" "g.824547C>G" "" "" "" "c.1196_1200delinsGGCGG p.(Leu399Arg) het" "" "Germline" "" "" "0" "" "" "g.824547C>G" "" "VUS" "ACMG" "0000545973" "0" "50" "11" "821676" "821676" "subst" "0.000666732" "01943" "PNPLA2_000002" "g.821676G>A" "" "" "" "PNPLA2(NM_020376.3):c.236G>A (p.R79Q, p.(Arg79Gln)), PNPLA2(NM_020376.4):c.236G>A (p.R79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.821676G>A" "" "VUS" "" "0000545974" "0" "30" "11" "821766" "821766" "subst" "0.000138101" "01943" "EFCAB4A_000002" "g.821766A>G" "" "" "" "PNPLA2(NM_020376.3):c.326A>G (p.H109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.821766A>G" "" "likely benign" "" "0000545976" "0" "30" "11" "823729" "823729" "subst" "0.0160035" "01804" "PNPLA2_000005" "g.823729C>T" "" "" "" "PNPLA2(NM_020376.4):c.793C>T (p.(Pro265Ser), p.P265S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823729C>T" "" "likely benign" "" "0000545977" "0" "30" "11" "823735" "823735" "subst" "0" "01804" "EFCAB4A_000003" "g.823735G>C" "" "" "" "PNPLA2(NM_020376.3):c.799G>C (p.(Ala267Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823735G>C" "" "likely benign" "" "0000545978" "0" "30" "11" "823739" "823739" "subst" "0.000442935" "01804" "EFCAB4A_000004" "g.823739G>C" "" "" "" "PNPLA2(NM_020376.3):c.803G>C (p.(Arg268Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823739G>C" "" "likely benign" "" "0000545979" "0" "30" "11" "823745" "823745" "subst" "0" "01804" "EFCAB4A_000005" "g.823745A>C" "" "" "" "PNPLA2(NM_020376.3):c.809A>C (p.(His270Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823745A>C" "" "likely benign" "" "0000545980" "0" "30" "11" "823745" "823748" "del" "0" "01804" "EFCAB4A_000006" "g.823745_823748del" "" "" "" "PNPLA2(NM_020376.3):c.809_812del (p.(His270ProfsTer49))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823745_823748del" "" "likely benign" "" "0000545985" "0" "30" "11" "824794" "824794" "subst" "0.000291919" "01804" "EFCAB4A_000009" "g.824794G>C" "" "" "" "PNPLA2(NM_020376.3):c.1447G>C (p.(Gly483Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.824794G>C" "" "likely benign" "" "0000545991" "0" "30" "11" "830709" "830709" "subst" "0" "01804" "CD151_000010" "g.830709G>C" "" "" "" "EFCAB4A(NM_173584.4):c.782G>C (p.(Arg261Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.830709G>C" "" "likely benign" "" "0000545992" "0" "50" "11" "831534" "831534" "subst" "4.5377E-6" "01804" "CD151_000011" "g.831534G>C" "" "" "" "EFCAB4A(NM_173584.4):c.859-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.831534G>C" "" "VUS" "" "0000613765" "0" "50" "11" "823527" "823527" "subst" "8.48947E-6" "02327" "EFCAB4A_000012" "g.823527G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823527G>A" "" "VUS" "" "0000613766" "0" "30" "11" "823556" "823556" "subst" "0.000162185" "02327" "EFCAB4A_000013" "g.823556C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823556C>T" "" "likely benign" "" "0000613767" "0" "50" "11" "823585" "823585" "subst" "0" "02327" "EFCAB4A_000014" "g.823585A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.823585A>T" "" "VUS" "" "0000613768" "0" "30" "11" "824021" "824021" "subst" "0.000415709" "02327" "EFCAB4A_000015" "g.824021C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.824021C>T" "" "likely benign" "" "0000613769" "0" "30" "11" "829478" "829480" "dup" "0" "01804" "CD151_000014" "g.829478_829480dup" "" "" "" "EFCAB4A(NM_173584.4):c.387_388insGAG (p.(Asp129_Glu130insGlu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.829478_829480dup" "" "likely benign" "" "0000622743" "0" "30" "11" "819840" "819840" "subst" "0" "01943" "EFCAB4A_000010" "g.819840C>T" "" "" "" "PNPLA2(NM_020376.3):c.122C>T (p.T41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.819840C>T" "" "likely benign" "" "0000622744" "0" "30" "11" "821809" "821809" "subst" "0.000674375" "01943" "EFCAB4A_000011" "g.821809C>T" "" "" "" "PNPLA2(NM_020376.3):c.369C>T (p.D123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.821809C>T" "" "likely benign" "" "0000648411" "1" "50" "11" "821676" "821676" "subst" "0.000666732" "03575" "PNPLA2_000002" "g.821676G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs139576982}" "Germline" "" "rs139576982" "0" "" "" "g.821676G>A" "" "VUS" "" "0000679362" "0" "30" "11" "822389" "822389" "subst" "0.000857744" "01943" "EFCAB4A_000016" "g.822389C>T" "" "" "" "PNPLA2(NM_020376.3):c.487-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708804" "3" "90" "11" "822494" "822494" "subst" "8.12137E-6" "00006" "PNPLA2_000013" "g.822494C>T" "" "{PMID:Avila-Smirnow 2020:33303358}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000805457" "0" "30" "11" "824777" "824777" "subst" "0.00148303" "01943" "EFCAB4A_000017" "g.824777C>T" "" "" "" "PNPLA2(NM_020376.3):c.1430C>T (p.P477L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853205" "0" "50" "11" "821676" "821676" "subst" "0.000666732" "01804" "PNPLA2_000002" "g.821676G>A" "" "" "" "PNPLA2(NM_020376.3):c.236G>A (p.R79Q, p.(Arg79Gln)), PNPLA2(NM_020376.4):c.236G>A (p.R79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853206" "0" "30" "11" "823859" "823859" "subst" "0.00459075" "01804" "PNPLA2_000006" "g.823859C>T" "" "" "" "PNPLA2(NM_020376.3):c.919+4C>T (p.?), PNPLA2(NM_020376.4):c.919+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890203" "0" "10" "11" "819486" "819486" "subst" "0" "02326" "EFCAB4A_000018" "g.819486T>C" "" "" "" "PNPLA2(NM_020376.4):c.-145-88T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890204" "0" "10" "11" "823809" "823809" "subst" "0.273359" "02326" "PNPLA2_000009" "g.823809C>G" "" "" "" "PNPLA2(NM_020376.4):c.873C>G (p.P291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925514" "0" "50" "11" "821778" "821778" "subst" "0.0003128" "01804" "EFCAB4A_000019" "g.821778G>A" "" "" "" "PNPLA2(NM_020376.3):c.338G>A (p.(Arg113His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966618" "0" "90" "11" "822523" "822523" "dup" "0" "02329" "EFCAB4A_000020" "g.822523dup" "" "" "" "PNPLA2(NM_020376.4):c.613dupC (p.L205Pfs*102)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966619" "0" "90" "11" "822605" "822605" "del" "4.06928E-6" "02327" "EFCAB4A_000021" "g.822605del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979921" "0" "30" "11" "819564" "819564" "subst" "0" "01804" "EFCAB4A_000022" "g.819564G>T" "" "" "" "PNPLA2(NM_020376.4):c.-145-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979922" "0" "50" "11" "822397" "822397" "subst" "0.0001219" "01804" "EFCAB4A_000023" "g.822397C>T" "" "" "" "PNPLA2(NM_020376.4):c.487C>T (p.(Arg163Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979923" "0" "50" "11" "823751" "823751" "subst" "6.06949E-5" "01804" "EFCAB4A_000024" "g.823751C>G" "" "" "" "PNPLA2(NM_020376.4):c.815C>G (p.(Pro272Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979924" "0" "30" "11" "824439" "824439" "subst" "0" "01804" "EFCAB4A_000025" "g.824439G>A" "" "" "" "PNPLA2(NM_020376.4):c.1175+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999521" "0" "30" "11" "824567" "824567" "subst" "0.000802046" "01804" "EFCAB4A_000026" "g.824567C>T" "" "" "" "PNPLA2(NM_020376.3):c.1220C>T (p.(Ser407Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021260" "3" "90" "11" "822494" "822494" "subst" "8.12137E-6" "00006" "PNPLA2_000013" "g.822494C>T" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.822494C>T" "" "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 PNPLA2 ## Count = 48 "{{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}}" "0000063732" "00016449" "50" "747" "0" "747" "0" "c.747G>A" "r.(=)" "p.(=)" "" "0000249160" "00016449" "10" "696" "16" "696" "16" "c.696+16A>G" "r.(=)" "p.(=)" "" "0000297196" "00016449" "10" "1442" "0" "1442" "0" "c.1442T>C" "r.(?)" "p.(Leu481Pro)" "" "0000301092" "00016449" "30" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000301093" "00016449" "30" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Asn252Lys)" "" "0000301094" "00016449" "30" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Pro265Ser)" "" "0000301095" "00016449" "30" "919" "4" "919" "4" "c.919+4C>T" "r.spl?" "p.?" "" "0000338813" "00016449" "10" "696" "16" "696" "16" "c.696+16A>G" "r.(=)" "p.(=)" "" "0000340487" "00016449" "10" "873" "0" "873" "0" "c.873C>G" "r.(?)" "p.(Pro291=)" "" "0000340488" "00016449" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Pro486=)" "" "0000347191" "00016449" "10" "1442" "0" "1442" "0" "c.1442T>C" "r.(?)" "p.(Leu481Pro)" "" "0000351383" "00016449" "30" "757" "16" "757" "16" "c.757+16C>T" "r.(=)" "p.(=)" "" "0000440034" "00016449" "50" "1196" "0" "1196" "0" "c.1196T>G" "r.(?)" "p.(Leu399Arg)" "" "0000440035" "00016449" "50" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Arg400=)" "" "0000545973" "00016449" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000545974" "00016449" "30" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(His109Arg)" "" "0000545976" "00016449" "30" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Pro265Ser)" "" "0000545977" "00016449" "30" "799" "0" "799" "0" "c.799G>C" "r.(?)" "p.(Ala267Pro)" "" "0000545978" "00016449" "30" "803" "0" "803" "0" "c.803G>C" "r.(?)" "p.(Arg268Pro)" "" "0000545979" "00016449" "30" "809" "0" "809" "0" "c.809A>C" "r.(?)" "p.(His270Pro)" "" "0000545980" "00016449" "30" "809" "0" "812" "0" "c.809_812del" "r.(?)" "p.(His270ProfsTer49)" "" "0000545985" "00016449" "30" "1447" "0" "1447" "0" "c.1447G>C" "r.(?)" "p.(Gly483Arg)" "" "0000545991" "00016449" "30" "7362" "0" "7362" "0" "c.*5847G>C" "r.(=)" "p.(=)" "" "0000545992" "00016449" "50" "8187" "0" "8187" "0" "c.*6672G>C" "r.(=)" "p.(=)" "" "0000613765" "00016449" "50" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Val233Met)" "" "0000613766" "00016449" "30" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Tyr242=)" "" "0000613767" "00016449" "50" "755" "0" "755" "0" "c.755A>T" "r.(?)" "p.(Asn252Ile)" "" "0000613768" "00016449" "30" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000613769" "00016449" "30" "6131" "0" "6133" "0" "c.*4616_*4618dup" "r.(=)" "p.(=)" "" "0000622743" "00016449" "30" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Thr41Met)" "" "0000622744" "00016449" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Asp123=)" "" "0000648411" "00016449" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000679362" "00016449" "30" "487" "-8" "487" "-8" "c.487-8C>T" "r.(=)" "p.(=)" "" "0000708804" "00016449" "90" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Pro195Leu)" "" "0000805457" "00016449" "30" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Pro477Leu)" "" "0000853205" "00016449" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000853206" "00016449" "30" "919" "4" "919" "4" "c.919+4C>T" "r.spl?" "p.?" "" "0000890203" "00016449" "10" "-145" "-88" "-145" "-88" "c.-145-88T>C" "r.(=)" "p.(=)" "" "0000890204" "00016449" "10" "873" "0" "873" "0" "c.873C>G" "r.(?)" "p.(Pro291=)" "" "0000925514" "00016449" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "" "0000966618" "00016449" "90" "613" "0" "613" "0" "c.613dup" "r.(?)" "p.(Leu205Profs*102)" "" "0000966619" "00016449" "90" "695" "0" "695" "0" "c.695del" "r.(?)" "p.(Leu232Argfs*24)" "" "0000979921" "00016449" "30" "-145" "-10" "-145" "-10" "c.-145-10G>T" "r.(=)" "p.(=)" "" "0000979922" "00016449" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000979923" "00016449" "50" "815" "0" "815" "0" "c.815C>G" "r.(?)" "p.(Pro272Arg)" "" "0000979924" "00016449" "30" "1175" "3" "1175" "3" "c.1175+3G>A" "r.spl?" "p.?" "" "0000999521" "00016449" "30" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ser407Phe)" "" "0001021260" "00016449" "90" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Pro195Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000036607" "0000063732" "0000209815" "0000440034" "0000209815" "0000440035" "0000291722" "0000648411" "0000325668" "0000708804" "0000461897" "0001021260"