### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LPIN3) # 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}}" "LPIN3" "lipin 3" "20" "q12" "unknown" "NC_000020.10" "UD_145628546993" "" "https://www.LOVD.nl/LPIN3" "" "1" "14451" "64900" "605520" "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/LPIN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2021-03-08 09:30:35" "00000" "2024-08-28 13:16:32" ## 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}}" "00024761" "LPIN3" "lipin 3" "004" "NM_022896.1" "" "NP_075047.1" "" "" "" "-91" "4272" "2556" "39969560" "39989222" "00000" "2017-08-08 15:24:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00308767" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00335721" "" "" "" "1" "" "00006" "{PMID:Altay 2020:32597698}" "2-generation family, patient’s father and mother are first cousins, mother has neurofibromatosis type 1" "F" "yes" "Turkey" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00308767" "00000" "00335721" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198 ## Count = 1 "{{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}}" "0000253641" "00198" "00335721" "00006" "Complex" "" "complex mixed phenotype of neurofibromatosis, cholestasis and failure to thrive caused by variants in 3 genes" "00y09m" "" "" "" "" "" "" "" "NF1;PFIC2;" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000309912" "00308767" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000336949" "00335721" "1" "00006" "00006" "2021-03-08 09:42:44" "" "" "SEQ-NG" "DNA" "" "clinical exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309912" "LPIN3" ## 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 = 12 "{{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}}" "0000276136" "0" "30" "20" "39990448" "39990448" "subst" "3.67023E-5" "01943" "EMILIN3_000003" "g.39990448G>T" "" "" "" "EMILIN3(NM_052846.2):c.1761C>A (p.L587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41361808G>T" "" "likely benign" "" "0000276137" "0" "50" "20" "39991611" "39991611" "subst" "0.000687808" "01943" "EMILIN3_000004" "g.39991611G>A" "" "" "" "EMILIN3(NM_052846.2):c.598C>T (p.L200F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41362971G>A" "" "VUS" "" "0000328387" "0" "30" "20" "39977524" "39977524" "subst" "0" "01804" "LPIN3_000001" "g.39977524C>T" "" "" "" "LPIN3(NM_022896.1):c.554C>T (p.(Pro185Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41348884C>T" "" "likely benign" "" "0000569573" "0" "30" "20" "39980761" "39980761" "subst" "0" "01943" "EMILIN3_000005" "g.39980761C>T" "" "" "" "LPIN3(NM_001301860.1):c.1267C>T (p.P423S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41352121C>T" "" "likely benign" "" "0000569574" "0" "50" "20" "39984582" "39984582" "subst" "8.20459E-6" "01943" "EMILIN3_000006" "g.39984582C>T" "" "" "" "LPIN3(NM_001301860.1):c.1714C>T (p.P572S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41355942C>T" "" "VUS" "" "0000569575" "0" "50" "20" "39990792" "39990792" "subst" "5.77401E-5" "01943" "EMILIN3_000007" "g.39990792G>A" "" "" "" "EMILIN3(NM_052846.2):c.1417C>T (p.R473C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41362152G>A" "" "VUS" "" "0000618119" "0" "30" "20" "39991293" "39991293" "subst" "0.000228199" "01943" "EMILIN3_000010" "g.39991293G>C" "" "" "" "EMILIN3(NM_052846.2):c.916C>G (p.R306G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41362653G>C" "" "likely benign" "" "0000624157" "0" "30" "20" "39990011" "39990011" "subst" "4.08714E-5" "01943" "EMILIN3_000009" "g.39990011C>T" "" "" "" "EMILIN3(NM_052846.2):c.2198G>A (p.R733H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41361371C>T" "" "likely benign" "" "0000684814" "0" "30" "20" "39974514" "39974514" "subst" "0.000694659" "00004" "LPIN3_000002" "g.39974514C>T" "frequency 0.015" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.41345874C>T" "" "likely benign" "" "0000727683" "0" "30" "20" "39977385" "39977385" "subst" "0" "01943" "EMILIN3_000011" "g.39977385A>C" "" "" "" "LPIN3(NM_001301860.1):c.415A>C (p.T139P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736490" "3" "90" "20" "39977793" "39977793" "subst" "1.2201E-5" "00006" "LPIN3_000003" "g.39977793G>A" "" "{PMID:Altay 2020:32597698}" "" "622G>A (Glu208Lys)" "variant linked to failure to thrive phenotype" "Germline" "" "" "0" "" "" "g.41349153G>A" "" "likely pathogenic (recessive)" "" "0000809246" "0" "50" "20" "39989972" "39989972" "subst" "2.45741E-5" "01804" "EMILIN3_000012" "g.39989972C>T" "" "" "" "EMILIN3(NM_052846.1):c.2237G>A (p.(Arg746Gln))" "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 LPIN3 ## Count = 12 "{{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}}" "0000276136" "00024761" "30" "5498" "0" "5498" "0" "c.*2942G>T" "r.(=)" "p.(=)" "" "0000276137" "00024761" "50" "6661" "0" "6661" "0" "c.*4105G>A" "r.(=)" "p.(=)" "" "0000328387" "00024761" "30" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Pro185Leu)" "" "0000569573" "00024761" "30" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Pro422Ser)" "" "0000569574" "00024761" "50" "1711" "0" "1711" "0" "c.1711C>T" "r.(?)" "p.(Pro571Ser)" "" "0000569575" "00024761" "50" "5842" "0" "5842" "0" "c.*3286G>A" "r.(=)" "p.(=)" "" "0000618119" "00024761" "30" "6343" "0" "6343" "0" "c.*3787G>C" "r.(=)" "p.(=)" "" "0000624157" "00024761" "30" "5061" "0" "5061" "0" "c.*2505C>T" "r.(=)" "p.(=)" "" "0000684814" "00024761" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Pro24Leu)" "" "0000727683" "00024761" "30" "415" "0" "415" "0" "c.415A>C" "r.(?)" "p.(Thr139Pro)" "" "0000736490" "00024761" "90" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Glu207Lys)" "" "0000809246" "00024761" "50" "5022" "0" "5022" "0" "c.*2466C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000309912" "0000684814" "0000336949" "0000736490"