### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DGAT2) # 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}}" "DGAT2" "diacylglycerol O-acyltransferase 2" "11" "q13.3" "unknown" "NC_000011.9" "UD_136019720738" "" "http://www.LOVD.nl/DGAT2" "" "1" "16940" "84649" "606983" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DGAT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-10 06:22:00" "00000" "2024-10-29 21:08:56" ## 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}}" "00006353" "DGAT2" "transcript variant 1" "001" "NM_032564.4" "" "NP_115953.2" "" "" "" "-259" "2195" "1167" "75479778" "75512581" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00056407" "" "" "" "1" "" "01493" "" "" "M" "no" "Korea" "" "0" "" "" "Korean" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00056407" "00199" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00199 ## Count = 1 "{{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}}" "0000043034" "00199" "00056407" "01493" "Familial, autosomal dominant" "" "autosomal dominant axonal CMT with early onset, sensory ataxia, tremor, and slow disease progression" "08y" "" "8y" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056367" "00056407" "1" "01493" "01493" "2015-12-24 04:02:23" "" "" "SEQ" "RNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000056367" "DGAT2" ## 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 = 21 "{{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}}" "0000086606" "21" "70" "11" "75508235" "75508235" "subst" "0" "01493" "DGAT2_000001" "g.75508235T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75797190T>C" "" "likely pathogenic" "" "0000545750" "0" "10" "11" "75508258" "75508258" "subst" "0.00459763" "02330" "DGAT2_000002" "g.75508258T>C" "" "" "" "DGAT2(NM_032564.5):c.690T>C (p.S230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75797213T>C" "" "benign" "" "0000545751" "0" "10" "11" "75511572" "75511572" "subst" "0.138136" "02330" "DGAT2_000003" "g.75511572T>C" "" "" "" "DGAT2(NM_032564.5):c.*19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75800527T>C" "" "benign" "" "0000613715" "0" "30" "11" "75509352" "75509352" "subst" "0.00227888" "02330" "DGAT2_000004" "g.75509352G>A" "" "" "" "DGAT2(NM_032564.5):c.890G>A (p.R297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75798307G>A" "" "likely benign" "" "0000613716" "0" "10" "11" "75511469" "75511469" "subst" "0.00963476" "02330" "DGAT2_000005" "g.75511469G>A" "" "" "" "DGAT2(NM_032564.5):c.1083G>A (p.M361I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75800424G>A" "" "benign" "" "0000679339" "0" "30" "11" "75508391" "75508391" "subst" "0.000888329" "02330" "DGAT2_000006" "g.75508391T>C" "" "" "" "DGAT2(NM_032564.5):c.809+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723712" "0" "10" "11" "75480108" "75480108" "subst" "0.00246269" "02330" "DGAT2_000007" "g.75480108G>A" "" "" "" "DGAT2(NM_032564.5):c.72G>A (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723713" "0" "50" "11" "75495786" "75495786" "subst" "0.000146229" "02330" "DGAT2_000008" "g.75495786T>C" "" "" "" "DGAT2(NM_032564.5):c.245T>C (p.V82A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723714" "0" "50" "11" "75501747" "75501747" "subst" "0" "02330" "DGAT2_000009" "g.75501747C>G" "" "" "" "DGAT2(NM_032564.5):c.400C>G (p.R134G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723715" "0" "30" "11" "75509352" "75509352" "subst" "0.00227888" "02326" "DGAT2_000004" "g.75509352G>A" "" "" "" "DGAT2(NM_032564.5):c.890G>A (p.R297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805405" "0" "30" "11" "75511465" "75511465" "subst" "0" "02330" "DGAT2_000010" "g.75511465C>T" "" "" "" "DGAT2(NM_032564.5):c.1079C>T (p.T360I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853180" "0" "30" "11" "75508317" "75508317" "subst" "0.00118627" "02330" "DGAT2_000011" "g.75508317G>A" "" "" "" "DGAT2(NM_032564.5):c.749G>A (p.G250D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853181" "0" "30" "11" "75508357" "75508357" "subst" "0" "02330" "DGAT2_000012" "g.75508357G>T" "" "" "" "DGAT2(NM_032564.5):c.789G>T (p.V263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853182" "0" "30" "11" "75508397" "75508397" "del" "0.0012001" "02330" "DGAT2_000013" "g.75508397del" "" "" "" "DGAT2(NM_032564.5):c.809+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890180" "0" "30" "11" "75480125" "75480125" "subst" "0.00056567" "02326" "DGAT2_000014" "g.75480125C>T" "" "" "" "DGAT2(NM_032564.5):c.89C>T (p.P30L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890181" "0" "50" "11" "75501295" "75501295" "subst" "0.000138271" "02327" "DGAT2_000015" "g.75501295C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890182" "0" "30" "11" "75508397" "75508397" "del" "0.0012001" "02326" "DGAT2_000013" "g.75508397del" "" "" "" "DGAT2(NM_032564.5):c.809+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890183" "0" "30" "11" "75509428" "75509428" "subst" "6.91265E-5" "02330" "DGAT2_000016" "g.75509428C>T" "" "" "" "DGAT2(NM_032564.5):c.966C>T (p.S322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913703" "0" "30" "11" "75480108" "75480108" "subst" "0.00246269" "02326" "DGAT2_000007" "g.75480108G>A" "" "" "" "DGAT2(NM_032564.5):c.72G>A (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966587" "0" "30" "11" "75480097" "75480097" "subst" "0.000759107" "02330" "DGAT2_000017" "g.75480097G>A" "" "" "" "DGAT2(NM_032564.5):c.61G>A (p.D21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014882" "0" "10" "11" "75509414" "75509414" "subst" "0.000910207" "02330" "DGAT2_000018" "g.75509414G>A" "" "" "" "DGAT2(NM_032564.5):c.952G>A (p.G318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 DGAT2 ## Count = 21 "{{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}}" "0000086606" "00006353" "70" "667" "0" "667" "0" "c.667T>C" "r.(?)" "p.(Tyr223His)" "6" "0000545750" "00006353" "10" "690" "0" "690" "0" "c.690T>C" "r.(?)" "p.(Ser230=)" "" "0000545751" "00006353" "10" "1186" "0" "1186" "0" "c.*19T>C" "r.(=)" "p.(=)" "" "0000613715" "00006353" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000613716" "00006353" "10" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Met361Ile)" "" "0000679339" "00006353" "30" "809" "14" "809" "14" "c.809+14T>C" "r.(=)" "p.(=)" "" "0000723712" "00006353" "10" "72" "0" "72" "0" "c.72G>A" "r.(?)" "p.(Gln24=)" "" "0000723713" "00006353" "50" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Val82Ala)" "" "0000723714" "00006353" "50" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000723715" "00006353" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000805405" "00006353" "30" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Thr360Ile)" "" "0000853180" "00006353" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Gly250Asp)" "" "0000853181" "00006353" "30" "789" "0" "789" "0" "c.789G>T" "r.(?)" "p.(Val263=)" "" "0000853182" "00006353" "30" "809" "20" "809" "20" "c.809+20del" "r.(=)" "p.(=)" "" "0000890180" "00006353" "30" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Pro30Leu)" "" "0000890181" "00006353" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Leu105Phe)" "" "0000890182" "00006353" "30" "809" "20" "809" "20" "c.809+20del" "r.(=)" "p.(=)" "" "0000890183" "00006353" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Ser322=)" "" "0000913703" "00006353" "30" "72" "0" "72" "0" "c.72G>A" "r.(?)" "p.(Gln24=)" "" "0000966587" "00006353" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Asp21Asn)" "" "0001014882" "00006353" "10" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Gly318Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000056367" "0000086606"