### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGPAT2) # 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}}" "AGPAT2" "1-acylglycerol-3-phosphate O-acyltransferase 2" "9" "q34.3" "unknown" "NG_008090.1" "UD_132118798032" "" "https://www.LOVD.nl/AGPAT2" "" "1" "325" "10555" "603100" "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/AGPAT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-21 10:43:56" "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}}" "00002235" "AGPAT2" "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta), transcript variant 1" "002" "NM_006412.3" "" "NP_006403.2" "" "" "" "-102" "1446" "837" "139581911" "139567595" "" "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}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02769" "CGL1" "lipodystrophy, generalized, congenital, type 1 (CGL-1)" "AR" "608594" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05543" "CGL" "lipodystrophy, generalized, congenital (CGL)" "" "" "" "" "" "00006" "2018-12-28 09:50:52" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AGPAT2" "02769" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00165004" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00165027" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00204201" "" "" "" "1" "" "03016" "" "" "F" "yes" "Iran" "" "0" "" "" "" "" "00240355" "" "" "" "1" "" "03326" "" "" "" "" "" "" "0" "" "" "" "" "00244842" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam1Pat1" "00244843" "" "" "" "2" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam2Pat1" "00244844" "" "" "00244843" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "M" "" "Turkey" "" "0" "" "see paper" "" "Fam2Pat2" "00244845" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam3Pat1" "00244846" "" "" "" "2" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam4Pat1" "00244847" "" "" "00244846" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "M" "" "Turkey" "" "0" "" "see paper" "" "Fam4Pat2" "00244848" "" "" "" "3" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 3 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam5Pat1" "00244849" "" "" "00244848" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam5Pat2" "00244850" "" "" "00244848" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam5Pat3" "00244851" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam6Pat1" "00244852" "" "" "" "2" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam7Pat1" "00244853" "" "" "00244852" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "M" "" "Turkey" "" "0" "" "see paper" "" "Fam7Pat2" "00244854" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam8Pat1" "00244855" "" "" "" "2" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "see paper" "" "Fam9Pat1" "00244856" "" "" "00244855" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "M" "" "Turkey" "" "0" "" "see paper" "" "Fam9Pat2" "00244857" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "see paper" "" "Fam10Pat1" "00294813" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00415269" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "24" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00165004" "00091" "00165027" "00091" "00204201" "02769" "00240355" "02769" "00244842" "05543" "00244843" "05543" "00244844" "05543" "00244845" "05543" "00244846" "05543" "00244847" "05543" "00244848" "05543" "00244849" "05543" "00244850" "05543" "00244851" "05543" "00244852" "05543" "00244853" "05543" "00244854" "05543" "00244855" "05543" "00244856" "05543" "00244857" "05543" "00294813" "00198" "00415269" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 02769, 04214, 05543 ## Count = 18 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000152705" "02769" "00204201" "03016" "Familial, autosomal recessive" "" "Berardinelli Seip syndrome and FSGS" "" "" "15y" "" "" "" "" "" "" "" "" "" "" "" "0000184808" "05543" "00244842" "00006" "Familial, autosomal recessive" "30y" "pseudoacromegaly, acanthosis nigricans, PCO, hypertension, diabetes, retinopathy, proteinuria, ESRD (renal transplantation), CAD, diabetic neuropathy, diabetic foot ulcer, toe amputation" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184809" "05543" "00244843" "00006" "Familial, autosomal recessive" "30y" "pseudoacromegaly, acanthosis nigricans, PCO, bone cysts, splenic artery aneurysm, hypertension diabetes, retinopathy, proteinuria, kidney failure, diabetic neuropathy, recurrent acute pancreatitis" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184810" "05543" "00244844" "00006" "Familial, autosomal recessive" "31y" "pseudoacromegaly, acanthosis nigricans, bone cysts, diabetes, microalbuminuria" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184811" "05543" "00244845" "00006" "Familial, autosomal recessive" "22y" "polycystic ovaries, acanthosis nigricans, hypertension, diabetes, proteinuria, diabetic neuropathy, recurrent acute pancreatitis" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184812" "05543" "00244846" "00006" "Familial, autosomal recessive" "62y" "bone cysts, toxic multinodular nodular goiter (received radioiodine), hypertension, diabetes, retinopathy, microalbuminuria, CAD; 62y-died" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184813" "05543" "00244847" "00006" "Familial, autosomal recessive" "64y" "bone cysts, familial Mediterranean fever, hypertension, diabetes, proteinuria, ESRD (on hemodialysis), diabetic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184814" "05543" "00244848" "00006" "Familial, autosomal recessive" "62y" "bone cysts, seizures, atrial flutter, subclinical hypothyroidism, diabetes, elevated liver enzymes, proteinuria, renal failure, CAD; 62y-died" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184815" "05543" "00244849" "00006" "Familial, autosomal recessive" "21y" "bone cysts, polycystic ovaries, acanthosis nigricans, diabetes, retinopathy, recurrent acute pancreatitis" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184816" "05543" "00244850" "00006" "Familial, autosomal recessive" "11y" "bone cysts, IFG, IGT, elevated liver enzymes" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184817" "05543" "00244851" "00006" "Familial, autosomal recessive" "25y" "diabetes, elevated liver enzymes, retinopathy, proteinuria, diabetic neuropathy, foot ulcer, amputation" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184818" "05543" "00244852" "00006" "Familial, autosomal recessive" "12y" "elevated HOMA score" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184819" "05543" "00244853" "00006" "Familial, autosomal recessive" "19y" "IGT" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184820" "05543" "00244854" "00006" "Familial, autosomal recessive" "3y" "elevated HOMA score, no hypertriglyceridemia" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184821" "05543" "00244855" "00006" "Familial, autosomal recessive" "56y" "pseudoacromegaly, elevated HOMA score, no hypertriglyceridemia" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184822" "05543" "00244856" "00006" "Familial, autosomal recessive" "11y" "pseudoacromegaly, acanthosis nigricans, IFG, elevated liver enzymes, no hypertriglyceridemia" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000184823" "05543" "00244857" "00006" "Familial, autosomal recessive" "4y6m" "pseudoacromegaly, no hypertriglyceridemia" "" "" "" "" "" "" "" "" "" "" "" "CGL-1" "congenital generalized lipodystrophy" "" "0000307067" "04214" "00415269" "00000" "Familial, autosomal recessive" "" "OMIM: 608594; failure to thrive, generalized lipodystrophy, and hypertriglyceridemia" "" "" "" "" "" "" "" "" "" "" "" "Congenital Generalized lipodystrophy type1" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165874" "00165004" "1" "02509" "02509" "2018-06-20 15:35:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000165897" "00165027" "1" "02509" "02509" "2018-06-20 17:12:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000205230" "00204201" "1" "03016" "03016" "2013-05-09 17:36:55" "00006" "2015-01-16 16:23:46" "arraySEQ" "DNA" "" "" "0000241460" "00240355" "1" "03326" "03326" "2019-06-14 09:03:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000245954" "00244842" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245955" "00244843" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245956" "00244844" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245957" "00244845" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245958" "00244846" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245959" "00244847" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245960" "00244848" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245961" "00244849" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245962" "00244850" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245963" "00244851" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245964" "00244852" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245965" "00244853" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245966" "00244854" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245967" "00244855" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245968" "00244856" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000245969" "00244857" "1" "00006" "00006" "2019-06-28 13:40:19" "" "" "SEQ" "DNA" "" "" "0000295981" "00294813" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000416551" "00415269" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000205230" "AGPAT2" "0000241460" "AGPAT2" "0000245954" "AGPAT2" "0000245955" "AGPAT2" "0000245956" "AGPAT2" "0000245957" "AGPAT2" "0000245958" "AGPAT2" "0000245959" "AGPAT2" "0000245960" "AGPAT2" "0000245961" "AGPAT2" "0000245962" "AGPAT2" "0000245963" "AGPAT2" "0000245964" "AGPAT2" "0000245965" "AGPAT2" "0000245966" "AGPAT2" "0000245967" "AGPAT2" "0000245968" "AGPAT2" "0000245969" "AGPAT2" "0000416551" "AGPAT2" ## 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}}" "0000259636" "0" "50" "9" "139581724" "139581724" "subst" "9.70261E-6" "02325" "AGPAT2_000004" "g.139581724T>C" "" "" "" "AGPAT2(NM_006412.4):c.86A>G (p.K29R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136687272T>C" "" "VUS" "" "0000260668" "0" "90" "9" "139571989" "139571989" "subst" "1.23578E-5" "02326" "AGPAT2_000003" "g.139571989G>A" "" "" "" "AGPAT2(NM_006412.3):c.202C>T (p.R68*), AGPAT2(NM_006412.4):c.202C>T (p.R68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136677537G>A" "" "pathogenic" "" "0000262074" "0" "30" "9" "139571472" "139571472" "subst" "2.86756E-5" "01943" "AGPAT2_000002" "g.139571472G>T" "" "" "" "AGPAT2(NM_001012727.1):c.433C>A (p.(Arg145Ser)), AGPAT2(NM_006412.3):c.433C>A (p.R145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136677020G>T" "" "likely benign" "" "0000262075" "0" "50" "9" "139568327" "139568327" "subst" "6.99178E-5" "01943" "AGPAT2_000009" "g.139568327C>T" "" "" "" "AGPAT2(NM_006412.3):c.714G>A (p.A238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136673875C>T" "" "VUS" "" "0000369652" "0" "70" "9" "139581758" "139581760" "dup" "0" "02509" "AGPAT2_000008" "g.139581758_139581760dup" "" "" "" "50_52dup" "" "Germline" "" "" "0" "" "" "g.136687306_136687308dup" "" "likely pathogenic" "" "0000369685" "0" "70" "9" "139581758" "139581760" "dup" "0" "02509" "AGPAT2_000008" "g.139581758_139581760dup" "" "" "" "50_52dup" "" "Germline" "" "" "0" "" "" "g.136687306_136687308dup" "" "likely pathogenic" "" "0000426566" "10" "95" "9" "139571541" "139571541" "subst" "0" "03016" "AGPAT2_000001" "g.139571541C>A" "" "" "" "122E>stop" "" "De novo" "" "" "0" "" "" "g.136677089C>A" "" "pathogenic" "" "0000487411" "3" "90" "9" "139571874" "139571874" "subst" "0" "03326" "AGPAT2_000010" "g.139571874C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.136677422C>A" "" "pathogenic (recessive)" "" "0000498162" "3" "90" "9" "139568381" "139568381" "subst" "0" "00006" "AGPAT2_000013" "g.139568381T>G" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673929T>G" "" "pathogenic (recessive)" "" "0000498163" "3" "90" "9" "139581666" "139581666" "subst" "0" "00006" "AGPAT2_000016" "g.139581666G>T" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136687214G>T" "" "pathogenic (recessive)" "" "0000498164" "3" "90" "9" "139581666" "139581666" "subst" "0" "00006" "AGPAT2_000016" "g.139581666G>T" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136687214G>T" "" "pathogenic (recessive)" "" "0000498165" "3" "90" "9" "139581666" "139581666" "subst" "0" "00006" "AGPAT2_000016" "g.139581666G>T" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136687214G>T" "" "pathogenic (recessive)" "" "0000498166" "3" "90" "9" "139571989" "139571989" "subst" "1.23578E-5" "00006" "AGPAT2_000003" "g.139571989G>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136677537G>A" "" "pathogenic (recessive)" "" "0000498167" "3" "90" "9" "139571989" "139571989" "subst" "1.23578E-5" "00006" "AGPAT2_000003" "g.139571989G>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136677537G>A" "" "pathogenic (recessive)" "" "0000498168" "3" "90" "9" "139568356" "139568356" "subst" "0" "00006" "AGPAT2_000012" "g.139568356C>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673904C>A" "" "pathogenic (recessive)" "" "0000498169" "3" "90" "9" "139568356" "139568356" "subst" "0" "00006" "AGPAT2_000012" "g.139568356C>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673904C>A" "" "pathogenic (recessive)" "" "0000498170" "3" "90" "9" "139568356" "139568356" "subst" "0" "00006" "AGPAT2_000012" "g.139568356C>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673904C>A" "" "pathogenic (recessive)" "" "0000498171" "3" "90" "9" "139569202" "139569202" "subst" "0.000377014" "00006" "AGPAT2_000014" "g.139569202T>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136674750T>A" "" "pathogenic (recessive)" "" "0000498172" "3" "90" "9" "139568336" "139568374" "del" "0" "00006" "AGPAT2_000011" "g.139568336_139568374delinsCGCAG" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673884_136673922delinsCGCAG" "" "pathogenic (recessive)" "" "0000498173" "3" "90" "9" "139568336" "139568374" "del" "0" "00006" "AGPAT2_000011" "g.139568336_139568374delinsCGCAG" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673884_136673922delinsCGCAG" "" "pathogenic (recessive)" "" "0000498174" "3" "90" "9" "139571925" "139571925" "del" "0" "00006" "AGPAT2_000015" "g.139571925del" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136677473del" "" "pathogenic (recessive)" "" "0000498175" "3" "90" "9" "139571874" "139571874" "subst" "0" "00006" "AGPAT2_000010" "g.139571874C>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136677422C>A" "" "pathogenic (recessive)" "" "0000498176" "3" "90" "9" "139571874" "139571874" "subst" "0" "00006" "AGPAT2_000010" "g.139571874C>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136677422C>A" "" "pathogenic (recessive)" "" "0000498177" "3" "90" "9" "139568356" "139568356" "subst" "0" "00006" "AGPAT2_000012" "g.139568356C>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.136673904C>A" "" "pathogenic (recessive)" "" "0000537480" "0" "30" "9" "139571430" "139571430" "subst" "0.00517598" "01804" "EGFL7_000004" "g.139571430G>A" "" "" "" "AGPAT2(NM_001012727.1):c.475C>T (p.(Arg159Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136676978G>A" "" "likely benign" "" "0000537481" "0" "30" "9" "139571909" "139571909" "subst" "3.66919E-5" "01943" "EGFL7_000005" "g.139571909G>A" "" "" "" "AGPAT2(NM_006412.3):c.282C>T (p.I94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136677457G>A" "" "likely benign" "" "0000537482" "0" "30" "9" "139581622" "139581622" "subst" "0.00136868" "01943" "AGPAT2_000017" "g.139581622C>T" "" "" "" "AGPAT2(NM_006412.3):c.182+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136687170C>T" "" "likely benign" "" "0000537483" "0" "10" "9" "139581762" "139581763" "ins" "0" "02325" "AGPAT2_000018" "g.139581762_139581763insCAG" "" "" "" "AGPAT2(NM_006412.4):c.47_48insCTG (p.L16_L17insW)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136687310_136687311insCAG" "" "benign" "" "0000612027" "0" "30" "9" "139571096" "139571096" "subst" "8.13015E-6" "02327" "EGFL7_000006" "g.139571096C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136676644C>T" "" "likely benign" "" "0000612028" "0" "90" "9" "139571989" "139571989" "subst" "1.23578E-5" "02327" "AGPAT2_000003" "g.139571989G>A" "" "" "" "AGPAT2(NM_006412.3):c.202C>T (p.R68*), AGPAT2(NM_006412.4):c.202C>T (p.R68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136677537G>A" "" "pathogenic" "" "0000652670" "1" "30" "9" "139571430" "139571430" "subst" "0.00517598" "03575" "EGFL7_000004" "g.139571430G>A" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs142993240}" "Germline" "" "rs142993240" "0" "" "" "g.136676978G>A" "" "likely benign" "" "0000656308" "0" "50" "9" "139568253" "139568253" "subst" "4.26112E-5" "01943" "EGFL7_000007" "g.139568253G>A" "" "" "" "AGPAT2(NM_006412.3):c.788C>T (p.P263L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136673801G>A" "" "VUS" "" "0000678617" "0" "50" "9" "139569202" "139569202" "subst" "0.000377014" "01943" "AGPAT2_000014" "g.139569202T>A" "" "" "" "AGPAT2(NM_006412.3):c.646A>T (p.K216*), AGPAT2(NM_006412.4):c.646A>T (p.K216*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678618" "0" "90" "9" "139569261" "139569261" "subst" "0.000101705" "02326" "EGFL7_000003" "g.139569261T>C" "" "" "" "AGPAT2(NM_006412.4):c.589-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690483" "0" "90" "9" "139571989" "139571989" "subst" "1.23578E-5" "01943" "AGPAT2_000003" "g.139571989G>A" "" "" "" "AGPAT2(NM_006412.3):c.202C>T (p.R68*), AGPAT2(NM_006412.4):c.202C>T (p.R68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722416" "0" "90" "9" "139569261" "139569261" "subst" "0.000101705" "02329" "EGFL7_000003" "g.139569261T>C" "" "" "" "AGPAT2(NM_006412.4):c.589-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804004" "0" "90" "9" "139569202" "139569202" "subst" "0.000377014" "02325" "AGPAT2_000014" "g.139569202T>A" "" "" "" "AGPAT2(NM_006412.3):c.646A>T (p.K216*), AGPAT2(NM_006412.4):c.646A>T (p.K216*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852192" "0" "50" "9" "139569244" "139569244" "subst" "0" "01943" "EGFL7_000009" "g.139569244C>T" "" "" "" "AGPAT2(NM_006412.3):c.604G>A (p.V202M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852193" "0" "50" "9" "139571490" "139571492" "del" "0" "01943" "EGFL7_000010" "g.139571490_139571492del" "" "" "" "AGPAT2(NM_006412.3):c.418_420delTTC (p.F140del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852194" "0" "30" "9" "139581620" "139581620" "subst" "0.00197765" "01943" "AGPAT2_000019" "g.139581620G>A" "" "" "" "AGPAT2(NM_001012727.1):c.182+8C>T (p.(=)), AGPAT2(NM_006412.3):c.182+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861576" "0" "10" "9" "139568339" "139568339" "subst" "0.0106152" "01804" "EGFL7_000008" "g.139568339G>A" "" "" "" "AGPAT2(NM_001012727.1):c.606C>T (p.(Ser202=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861577" "0" "30" "9" "139581620" "139581620" "subst" "0.00197765" "01804" "AGPAT2_000019" "g.139581620G>A" "" "" "" "AGPAT2(NM_001012727.1):c.182+8C>T (p.(=)), AGPAT2(NM_006412.3):c.182+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874679" "3" "70" "9" "139571571" "139571571" "del" "0" "00000" "AGPAT2_000020" "g.139571571del" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "AGPAT2,NM_006412.3,c.335del, p.Pro112Argfs*39" "homozygous" "Unknown" "?" "" "0" "" "" "g.136677119del" "" "likely pathogenic" "ACMG" "0000925019" "0" "50" "9" "139571472" "139571472" "subst" "2.86756E-5" "01804" "AGPAT2_000002" "g.139571472G>T" "" "" "" "AGPAT2(NM_001012727.1):c.433C>A (p.(Arg145Ser)), AGPAT2(NM_006412.3):c.433C>A (p.R145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997695" "0" "30" "9" "139571464" "139571464" "subst" "8.19477E-6" "01804" "EGFL7_000011" "g.139571464G>T" "" "" "" "AGPAT2(NM_006412.3):c.441C>A (p.(Ser147Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997696" "0" "30" "9" "139571465" "139571465" "subst" "8.19397E-6" "01804" "EGFL7_000012" "g.139571465C>A" "" "" "" "AGPAT2(NM_006412.3):c.440G>T (p.(Ser147Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025644" "0" "30" "9" "139568309" "139568309" "subst" "0.000442374" "01804" "EGFL7_000013" "g.139568309G>A" "" "" "" "AGPAT2(NM_001012727.1):c.636C>T (p.(Leu212=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037355" "0" "30" "9" "139563037" "139563037" "subst" "8.25437E-6" "01804" "EGFL7_000014" "g.139563037G>A" "" "" "" "EGFL7(NM_016215.5):c.109G>A (p.(Gly37Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AGPAT2 ## 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}}" "0000259636" "00002235" "50" "86" "0" "86" "0" "c.86A>G" "r.(?)" "p.(Lys29Arg)" "" "0000260668" "00002235" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Ter)" "" "0000262074" "00002235" "30" "433" "0" "433" "0" "c.433C>A" "r.(?)" "p.(Arg145Ser)" "" "0000262075" "00002235" "50" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Ala238=)" "" "0000369652" "00002235" "70" "52" "0" "54" "0" "c.52_54dup" "r.(?)" "p.(Val18dup)" "" "0000369685" "00002235" "70" "52" "0" "54" "0" "c.52_54dup" "r.(?)" "p.(Val18dup)" "" "0000426566" "00002235" "95" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122*)" "3" "0000487411" "00002235" "90" "316" "1" "316" "1" "c.316+1G>T" "r.spl" "p.?" "" "0000498162" "00002235" "90" "662" "-2" "662" "-2" "c.662-2A>C" "r.spl" "p.?" "" "0000498163" "00002235" "90" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Cys48*)" "" "0000498164" "00002235" "90" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Cys48*)" "" "0000498165" "00002235" "90" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Cys48*)" "" "0000498166" "00002235" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68*)" "" "0000498167" "00002235" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68*)" "" "0000498168" "00002235" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Glu229*)" "" "0000498169" "00002235" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Glu229*)" "" "0000498170" "00002235" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Glu229*)" "" "0000498171" "00002235" "90" "646" "0" "646" "0" "c.646A>T" "r.(?)" "p.(Lys216*)" "" "0000498172" "00002235" "90" "667" "0" "705" "0" "c.667_705delinsCTGCG" "r.(?)" "p.(Val223Leufs*19)" "" "0000498173" "00002235" "90" "667" "0" "705" "0" "c.667_705delinsCTGCG" "r.(?)" "p.(Val223Leufs*19)" "" "0000498174" "00002235" "90" "268" "0" "268" "0" "c.268del" "r.(?)" "p.(Arg90Valfs*15)" "" "0000498175" "00002235" "90" "316" "1" "316" "1" "c.316+1G>T" "r.spl" "p.?" "" "0000498176" "00002235" "90" "316" "1" "316" "1" "c.316+1G>T" "r.spl" "p.?" "" "0000498177" "00002235" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Glu229*)" "" "0000537480" "00002235" "30" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000537481" "00002235" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Ile94=)" "" "0000537482" "00002235" "30" "182" "6" "182" "6" "c.182+6G>A" "r.(=)" "p.(=)" "" "0000537483" "00002235" "10" "47" "0" "48" "0" "c.47_48insCTG" "r.(?)" "p.(Leu16_Leu17insTrp)" "" "0000612027" "00002235" "30" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Asp177Asn)" "" "0000612028" "00002235" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Ter)" "" "0000652670" "00002235" "30" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000656308" "00002235" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "" "0000678617" "00002235" "50" "646" "0" "646" "0" "c.646A>T" "r.(?)" "p.(Lys216Ter)" "" "0000678618" "00002235" "90" "589" "-2" "589" "-2" "c.589-2A>G" "r.spl?" "p.?" "" "0000690483" "00002235" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Ter)" "" "0000722416" "00002235" "90" "589" "-2" "589" "-2" "c.589-2A>G" "r.spl?" "p.?" "" "0000804004" "00002235" "90" "646" "0" "646" "0" "c.646A>T" "r.(?)" "p.(Lys216Ter)" "" "0000852192" "00002235" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Val202Met)" "" "0000852193" "00002235" "50" "418" "0" "420" "0" "c.418_420del" "r.(?)" "p.(Phe140del)" "" "0000852194" "00002235" "30" "182" "8" "182" "8" "c.182+8C>T" "r.(=)" "p.(=)" "" "0000861576" "00002235" "10" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Ser234=)" "" "0000861577" "00002235" "30" "182" "8" "182" "8" "c.182+8C>T" "r.(=)" "p.(=)" "" "0000874679" "00002235" "70" "335" "0" "335" "0" "c.335del" "r.(?)" "p.(Pro112Argfs*39)" "" "0000925019" "00002235" "50" "433" "0" "433" "0" "c.433C>A" "r.(?)" "p.(Arg145Ser)" "" "0000997695" "00002235" "30" "441" "0" "441" "0" "c.441C>A" "r.(?)" "p.(Ser147Arg)" "" "0000997696" "00002235" "30" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Ser147Ile)" "" "0001025644" "00002235" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(=)" "" "0001037355" "00002235" "30" "6004" "0" "6004" "0" "c.*5167C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000165874" "0000369652" "0000165897" "0000369685" "0000205230" "0000426566" "0000241460" "0000487411" "0000245954" "0000498162" "0000245955" "0000498163" "0000245956" "0000498164" "0000245957" "0000498165" "0000245958" "0000498166" "0000245959" "0000498167" "0000245960" "0000498168" "0000245961" "0000498169" "0000245962" "0000498170" "0000245963" "0000498171" "0000245964" "0000498172" "0000245965" "0000498173" "0000245966" "0000498174" "0000245967" "0000498175" "0000245968" "0000498176" "0000245969" "0000498177" "0000295981" "0000652670" "0000416551" "0000874679"