### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LPIN1) # 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}}" "LPIN1" "lipin 1" "2" "p25.1" "unknown" "NG_012843.2" "UD_134408323152" "" "https://www.LOVD.nl/LPIN1" "" "1" "13345" "23175" "605518" "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/LPIN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-21 14:05:31" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00011497" "LPIN1" "transcript variant 1" "004" "NM_145693.2" "" "NP_663731.1" "" "" "" "-85" "5291" "2673" "11886722" "11967535" "" "0000-00-00 00:00:00" "" "" "00025558" "LPIN1" "transcript variant 3" "001" "NM_001261428.1" "" "NP_001248357.1" "" "" "" "-69" "5546" "2928" "11817705" "11967535" "00006" "2020-10-11 11:35:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "02057" "myoglobinuria" "myoglobinuria" "AR" "268200" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LPIN1" "02057" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00036070" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036071" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036072" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036073" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036074" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036075" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036076" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036077" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036078" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036079" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036080" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036081" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036082" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036083" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036084" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036085" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036086" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036087" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00263053" "" "" "" "1" "" "03398" "" "" "M" "no" "Hong Kong" "" "0" "" "" "Hong Kong Chinese" "" "00267047" "" "" "" "1" "" "03462" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents" "F" "" "Mexico" "02y" "0" "" "" "Hispanic" "Fam2PatI1" "00292235" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314362" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314537" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "patient" "00409340" "" "" "" "1" "" "00006" "{PMID:Hong 2022:35387801}" "" "" "" "Korea" "" "0" "" "" "" "CDC_NM42.1" "00414483" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP150" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00036070" "00198" "00036078" "00198" "00036079" "00198" "00036080" "00198" "00036081" "00198" "00036083" "01926" "00263053" "02057" "00267047" "00174" "00292235" "00198" "00314362" "05126" "00314537" "05126" "00409340" "05618" "00414483" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00174, 00198, 01926, 02057, 05126, 05618 ## Count = 11 "{{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}}" "0000156341" "00198" "00036070" "01164" "Unknown" "" "relapsing rhabdomyolysis, mental retardation" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000156342" "00198" "00036078" "01164" "Unknown" "" "repeated epiosdes with rhabdomyolysis from the age of 2 ( 10 attacks)" "" "" "" "" "" "" "" "" "" "rhabdomyolysis" "" "0000156343" "00198" "00036079" "01164" "Unknown" "" "repeated epiosdes with rhabdomyolysis from the age of 2 ( 10 attacks)" "" "" "" "" "" "" "" "" "" "rhabdomyolysis" "" "0000156344" "00198" "00036080" "01164" "Unknown" "" "repeated epiosdes with rhabdomyolysis from the age of 2 ( 10 attacks)" "" "" "" "" "" "" "" "" "" "rhabdomyolysis" "" "0000156345" "00198" "00036081" "01164" "Unknown" "" "repeated epiosdes with rhabdomyolysis from the age of 2 ( 10 attacks)" "" "" "" "" "" "" "" "" "" "rhabdomyolysis" "" "0000156346" "01926" "00036083" "01164" "Unknown" "" "myalgia" "" "" "" "" "" "" "" "" "" "myalgia" "" "0000201529" "02057" "00263053" "03398" "Familial, autosomal recessive" "06y" "" "00y15m" "06y" "" "" "" "" "" "" "" "" "" "0000204977" "00174" "00267047" "03462" "Familial, autosomal dominant" "02y" "LDL 672mg/dl" "" "" "HP:0003124" "" "" "" "" "" "Homozygous familial hypercholesterolemia" "Homozygous familial hypercholesterolemia" "" "0000238326" "05126" "00314537" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "limb girdle muscular dystrophy" "" "0000301457" "05618" "00409340" "00006" "Familial, autosomal recessive" "" "see paper; ..., recurrent rhabdomyolysis" "" "" "" "" "" "" "" "" "" "recurrent rhabdomyolysis" "" "0000306318" "00198" "00414483" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "Acute Recurrent Myoglobinuria" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036140" "00036070" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036141" "00036071" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036142" "00036072" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036143" "00036073" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036144" "00036074" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036145" "00036075" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036146" "00036076" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036147" "00036077" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036148" "00036078" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036149" "00036079" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036150" "00036080" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036151" "00036081" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036152" "00036082" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036153" "00036083" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036154" "00036084" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036155" "00036085" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036156" "00036086" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036157" "00036087" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000264159" "00263053" "1" "03398" "03398" "2019-08-21 05:29:50" "" "" "SEQ" "DNA" "leukocytes" "" "0000268176" "00267047" "1" "03462" "03462" "2019-11-01 04:28:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000293403" "00292235" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315535" "00314362" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315710" "00314537" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000410604" "00409340" "1" "00006" "00006" "2022-05-06 20:01:37" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000415763" "00414483" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000036140" "LPIN1" "0000036141" "LPIN1" "0000036142" "LPIN1" "0000036143" "LPIN1" "0000036144" "LPIN1" "0000036145" "LPIN1" "0000036146" "LPIN1" "0000036147" "LPIN1" "0000036148" "LPIN1" "0000036149" "LPIN1" "0000036150" "LPIN1" "0000036151" "LPIN1" "0000036152" "LPIN1" "0000036153" "LPIN1" "0000036154" "LPIN1" "0000036155" "LPIN1" "0000036156" "LPIN1" "0000036157" "LPIN1" "0000264159" "LPIN1" "0000268176" "LDLR" "0000315535" "LPIN1" "0000315710" "LPIN1" "0000410604" "LPIN1" "0000415763" "LPIN1" ## 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 = 41 "{{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}}" "0000063265" "1" "50" "2" "11967011" "11967011" "subst" "0" "01164" "LPIN1_000009" "g.11967011T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11826885T>G" "" "VUS" "" "0000063266" "1" "10" "2" "11966487" "11966487" "subst" "0" "01164" "LPIN1_000008" "g.11966487C>G" "frequency 7-14%" "" "" "" "" "Germline" "" "rs10700" "0" "" "" "g.11826361C>G" "" "benign" "" "0000063267" "1" "10" "2" "11928423" "11928423" "subst" "0" "01164" "LPIN1_000004" "g.11928423C>T" "frequency 4-7%" "" "" "" "" "Germline" "" "rs17603350" "0" "" "" "g.11788297C>T" "" "benign" "" "0000063268" "1" "10" "2" "11911761" "11911761" "subst" "0.0983718" "01164" "LPIN1_000013" "g.11911761C>T" "" "" "" "" "" "Germline" "" "rs11538448" "0" "" "" "g.11771635C>T" "" "benign" "" "0000063269" "1" "10" "2" "11911349" "11911349" "subst" "0" "01164" "LPIN1_000012" "g.11911349A>C" "" "" "" "" "" "Germline" "" "rs80269575" "0" "" "" "g.11771223A>C" "" "benign" "" "0000063270" "1" "10" "2" "11907842" "11907842" "subst" "0.144012" "01164" "LPIN1_000011" "g.11907842C>T" "" "" "" "" "" "Germline" "" "rs45509591" "0" "" "" "g.11767716C>T" "" "benign" "" "0000063271" "1" "50" "2" "11967201" "11967201" "subst" "0" "01164" "LPIN1_000010" "g.11967201A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11827075A>G" "" "VUS" "" "0000063272" "1" "10" "2" "11927238" "11927238" "subst" "0.0165731" "01164" "LPIN1_000003" "g.11927238G>A" "" "" "" "" "1,7% MAF" "Germline" "" "rs33997857" "0" "" "" "g.11787112G>A" "" "benign" "" "0000063273" "1" "50" "2" "11886917" "11886917" "subst" "0" "01164" "LPIN1_000015" "g.11886917G>A" "" "" "" "" "" "Germline" "" "rs112959048" "0" "" "" "g.11746791G>A" "" "VUS" "" "0000063274" "1" "10" "2" "11913806" "11913806" "subst" "0.0169102" "01164" "LPIN1_000001" "g.11913806G>A" "" "" "" "" "" "Germline" "" "rs59909741" "0" "" "" "g.11773680G>A" "" "benign" "" "0000063275" "1" "50" "2" "11944736" "11944736" "subst" "0.0031338" "01164" "LPIN1_000006" "g.11944736T>C" "" "" "" "" "" "Germline" "" "rs75389218" "0" "" "" "g.11804610T>C" "" "VUS" "" "0000063276" "1" "90" "2" "11960641" "11960641" "subst" "0" "01164" "LPIN1_000007" "g.11960641G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11820515G>A" "" "pathogenic" "" "0000063277" "1" "90" "2" "11905724" "11905724" "subst" "0" "01164" "LPIN1_000018" "g.11905724C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11765598C>A" "" "pathogenic" "" "0000063278" "1" "50" "2" "11922429" "11922429" "subst" "8.1217E-6" "01164" "LPIN1_000002" "g.11922429T>G" "" "" "" "" "Polyphen-2:benign (PSIC: 0,042)" "Germline" "" "" "0" "" "" "g.11782303T>G" "" "VUS" "" "0000063279" "1" "50" "2" "11913727" "11913727" "subst" "0" "01164" "LPIN1_000014" "g.11913727C>T" "" "" "" "" "" "Germline" "" "rs80086468" "0" "" "" "g.11773601C>T" "" "VUS" "" "0000063280" "1" "10" "2" "11886952" "11886952" "subst" "0" "01164" "LPIN1_000016" "g.11886952G>C" "" "" "" "" "" "Germline" "" "rs62113307" "0" "" "" "g.11746826G>C" "" "benign" "" "0000063281" "1" "10" "2" "11931940" "11931940" "dup" "0" "01164" "LPIN1_000005" "g.11931940dup" "" "" "" "" "" "Germline" "" "rs78343196" "0" "" "" "g.11791814dup" "" "benign" "" "0000063282" "1" "10" "2" "11905645" "11905645" "del" "0" "01164" "LPIN1_000017" "g.11905645del" "" "" "" "" "" "Germline" "" "rs75670699" "0" "" "" "g.11765519del" "" "benign" "" "0000282278" "0" "10" "2" "11905645" "11905645" "del" "0" "02325" "LPIN1_000017" "g.11905645del" "" "" "" "LPIN1(NM_001261428.3):c.139-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11765519del" "" "benign" "" "0000282279" "0" "10" "2" "11911761" "11911761" "subst" "0.0983718" "02325" "LPIN1_000013" "g.11911761C>T" "" "" "" "LPIN1(NM_001261428.3):c.699C>T (p.I233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11771635C>T" "" "benign" "" "0000347547" "0" "50" "2" "11922348" "11922348" "subst" "4.06792E-6" "02327" "LPIN1_000019" "g.11922348A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11782222A>G" "" "VUS" "" "0000509031" "0" "50" "2" "11853939" "11853939" "subst" "3.2644E-5" "02327" "LPIN1_000022" "g.11853939G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11713813G>A" "" "VUS" "" "0000593745" "1" "70" "2" "11944592" "11944610" "dup" "0" "03398" "LPIN1_000025" "g.11944592_11944610dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11804466_11804484dup" "" "likely pathogenic (recessive)" "" "0000593746" "2" "50" "2" "11960537" "11960537" "subst" "0" "03398" "LPIN1_000024" "g.11960537G>C" "" "" "felixck" "" "" "Germline" "" "" "0" "" "" "g.11820411G>C" "" "VUS" "" "0000601040" "11" "70" "2" "11919668" "11919668" "subst" "0.000535997" "03462" "LPIN1_000026" "g.11919668C>A" "" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "" "" "association variant with phenotype uncertain" "Germline" "" "rs141555457" "0" "" "" "g.11779542C>A" "" "VUS" "" "0000606070" "0" "10" "2" "11905876" "11905876" "subst" "0.296021" "02327" "LPIN1_000027" "g.11905876C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11765750C>T" "" "benign" "" "0000606071" "0" "10" "2" "11911761" "11911761" "subst" "0.0983718" "02327" "LPIN1_000013" "g.11911761C>T" "" "" "" "LPIN1(NM_001261428.3):c.699C>T (p.I233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11771635C>T" "" "benign" "" "0000606072" "0" "50" "2" "11916210" "11916210" "subst" "0.00144841" "01943" "LPIN1_000023" "g.11916210A>C" "" "" "" "LPIN1(NM_001349205.1):c.723-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11776084A>C" "" "VUS" "" "0000606073" "0" "30" "2" "11932055" "11932055" "subst" "0.00218981" "01943" "LPIN1_000028" "g.11932055A>G" "" "" "" "LPIN1(NM_001261428.2):c.1876A>G (p.I626V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11791929A>G" "" "likely benign" "" "0000650092" "1" "30" "2" "11927238" "11927238" "subst" "0.0165731" "03575" "LPIN1_000003" "g.11927238G>A" "16/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs33997857}" "Germline" "" "rs33997857" "0" "" "" "g.11787112G>A" "" "likely benign" "" "0000675998" "0" "30" "2" "11817863" "11817863" "subst" "0.000810622" "01943" "LPIN1_000029" "g.11817863C>T" "" "" "" "LPIN1(NM_001261428.2):c.81+9C>T, LPIN1(NM_001261428.3):c.81+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688300" "0" "30" "2" "11944617" "11944617" "subst" "1.21819E-5" "01943" "LPIN1_000030" "g.11944617G>A" "" "" "" "LPIN1(NM_001349205.1):c.2082G>A (p.T694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697624" "0" "70" "2" "11922624" "11922624" "subst" "0.000244061" "00006" "LPIN1_000031" "g.11922624A>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.11782498A>G" "" "likely pathogenic" "" "0000697799" "3" "90" "2" "11959611" "11959724" "del" "0" "00006" "LPIN1_000032" "g.(?_11959611)_(11959724_?)del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "chr2:11959611-11959724" "0.11 kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000847948" "21" "90" "2" "11907984" "11907984" "subst" "4.06646E-6" "00006" "LPIN1_000034" "g.11907984G>A" "" "{PMID:Hong 2022:35387801}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000847981" "11" "90" "2" "11905668" "11964917" "" "0" "00006" "LPIN1_000000" "g.(11905668_11964917)?" "" "{PMID:Hong 2022:35387801}" "" "" "" "Germline" "" "" "0" "" "" "g.(11765542_11824791)?" "" "pathogenic (recessive)" "" "0000873654" "3" "70" "2" "11907909" "11907910" "dup" "0" "00000" "LPIN1_000035" "g.11907909_11907910dup" "250" "{PMID:Sun 2018:30076350}" "" "LPIN1(NM_145693.2):c.357_358insCT(p.K121Terfs*1)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.11767783_11767784dup" "" "likely pathogenic" "" "0000883714" "0" "10" "2" "11955322" "11955322" "subst" "0.0120929" "02326" "LPIN1_000036" "g.11955322G>C" "" "" "" "LPIN1(NM_145693.4):c.2250G>C (p.G750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947338" "0" "10" "2" "11853913" "11853913" "subst" "0.22773" "02326" "LPIN1_000037" "g.11853913G>A" "" "" "" "LPIN1(NM_001261428.3):c.113G>A (p.(Arg38Gln), p.R38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974247" "0" "10" "2" "11853913" "11853913" "subst" "0.22773" "01804" "LPIN1_000037" "g.11853913G>A" "" "" "" "LPIN1(NM_001261428.3):c.113G>A (p.(Arg38Gln), p.R38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032335" "0" "30" "2" "11817863" "11817863" "subst" "0.000810622" "02326" "LPIN1_000029" "g.11817863C>T" "" "" "" "LPIN1(NM_001261428.2):c.81+9C>T, LPIN1(NM_001261428.3):c.81+9C>T" "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 LPIN1 ## Count = 58 "{{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}}" "0000063265" "00011497" "50" "4767" "0" "4767" "0" "c.*2094T>G" "r.(=)" "p.(=)" "" "0000063266" "00011497" "10" "4243" "0" "4243" "0" "c.*1570C>G" "r.(=)" "p.(=)" "" "0000063267" "00011497" "10" "1536" "-90" "1536" "-90" "c.1536-90C>T" "r.(=)" "p.(=)" "" "0000063268" "00011497" "10" "552" "0" "552" "0" "c.552C>T" "r.(=)" "p.(=)" "" "0000063269" "00011497" "10" "289" "-149" "289" "-149" "c.289-149A>C" "r.(=)" "p.(=)" "" "0000063270" "00011497" "10" "193" "-47" "193" "-47" "c.193-47C>T" "r.(=)" "p.(=)" "" "0000063271" "00011497" "50" "4957" "0" "4957" "0" "c.*2284A>G" "r.(=)" "p.(=)" "" "0000063272" "00011497" "10" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Val494Met)" "" "0000063273" "00011497" "50" "-10" "120" "-10" "120" "c.-10+120G>A" "r.(=)" "p.(=)" "" "0000063274" "00011497" "10" "657" "0" "657" "0" "c.657G>A" "r.(=)" "p.(=)" "" "0000063275" "00011497" "50" "2054" "39" "2054" "39" "c.2054+39T>C" "r.(=)" "p.(=)" "" "0000063276" "00011497" "90" "2513" "1" "2513" "1" "c.2513+1G>A" "r.spl?" "p.?" "" "0000063277" "00011497" "90" "57" "0" "57" "0" "c.57C>A" "r.(?)" "p.(Tyr19*)" "" "0000063278" "00011497" "50" "952" "0" "952" "0" "c.952T>G" "r.(?)" "p.(Phe318Val)" "" "0000063279" "00011497" "50" "597" "-19" "597" "-19" "c.597-19C>T" "r.(=)" "p.(=)" "" "0000063280" "00011497" "10" "-10" "155" "-10" "155" "c.-10+155G>C" "r.(=)" "p.(=)" "" "0000063281" "00011497" "10" "1606" "-100" "1606" "-100" "c.1606-100dup" "r.(=)" "p.(=)" "" "0000063282" "00011497" "10" "-9" "-14" "-9" "-14" "c.-9-14del" "r.(=)" "p.(=)" "" "0000282278" "00025558" "10" "139" "-14" "139" "-14" "c.139-14del" "r.(=)" "p.(=)" "" "0000282278" "00011497" "10" "-9" "-14" "-9" "-14" "c.-9-14del" "r.(=)" "p.(=)" "" "0000282279" "00025558" "10" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Ile233=)" "" "0000282279" "00011497" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ile184=)" "" "0000347547" "00025558" "50" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "" "0000347547" "00011497" "50" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Lys291Glu)" "" "0000509031" "00025558" "50" "138" "1" "138" "1" "c.138+1G>A" "r.spl?" "p.?" "" "0000509031" "00011497" "50" "-32868" "0" "-32868" "0" "c.-32868G>A" "r.(?)" "p.(=)" "" "0000593745" "00011497" "70" "1949" "0" "1967" "0" "c.1949_1967dup" "r.(?)" "p.(Gly657Cysfs*12)" "" "0000593746" "00011497" "50" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "" "0000601040" "00011497" "70" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Thr249Lys)" "" "0000606070" "00025558" "10" "339" "17" "339" "17" "c.339+17C>T" "r.(=)" "p.(=)" "" "0000606070" "00011497" "10" "192" "17" "192" "17" "c.192+17C>T" "r.(=)" "p.(=)" "" "0000606071" "00025558" "10" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Ile233=)" "" "0000606071" "00011497" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ile184=)" "" "0000606072" "00025558" "50" "870" "-2" "870" "-2" "c.870-2A>C" "r.spl?" "p.?" "" "0000606072" "00011497" "50" "722" "2339" "722" "2339" "c.722+2339A>C" "r.(=)" "p.(=)" "" "0000606073" "00025558" "30" "1876" "0" "1876" "0" "c.1876A>G" "r.(?)" "p.(Ile626Val)" "" "0000606073" "00011497" "30" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" "" "0000650092" "00025558" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000650092" "00011497" "30" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Val494Met)" "" "0000675998" "00025558" "30" "81" "9" "81" "9" "c.81+9C>T" "r.(=)" "p.(=)" "" "0000675998" "00011497" "30" "-68944" "0" "-68944" "0" "c.-68944C>T" "r.(?)" "p.(=)" "" "0000688300" "00025558" "30" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Thr743=)" "" "0000688300" "00011497" "30" "1974" "0" "1974" "0" "c.1974G>A" "r.(?)" "p.(Thr658=)" "" "0000697624" "00025558" "70" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Arg468Gly)" "" "0000697799" "00025558" "90" "2551" "0" "2664" "0" "c.(?_2551)_(2664_?)del" "r.?" "p.?" "" "0000847948" "00025558" "90" "435" "0" "435" "0" "c.435G>A" "r.spl" "p.?" "" "0000847948" "00011497" "90" "288" "0" "288" "0" "c.288G>A" "r.193_288del" "p.Val65_Gln96del" "" "0000847981" "00025558" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)*" "" "0000847981" "00011497" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)*" "" "0000873654" "00011497" "70" "358" "0" "359" "0" "c.358_359dup" "r.(?)" "p.(Lys121*)" "" "0000883714" "00025558" "10" "2505" "0" "2505" "0" "c.2505G>C" "r.(?)" "p.(Gly835=)" "" "0000883714" "00011497" "10" "2250" "0" "2250" "0" "c.2250G>C" "r.(?)" "p.(Gly750=)" "" "0000947338" "00025558" "10" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000947338" "00011497" "10" "-32894" "0" "-32894" "0" "c.-32894G>A" "r.(?)" "p.(=)" "" "0000974247" "00025558" "10" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000974247" "00011497" "10" "-32894" "0" "-32894" "0" "c.-32894G>A" "r.(?)" "p.(=)" "" "0001032335" "00025558" "30" "81" "9" "81" "9" "c.81+9C>T" "r.(=)" "p.(=)" "" "0001032335" "00011497" "30" "-68944" "0" "-68944" "0" "c.-68944C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000036140" "0000063265" "0000036141" "0000063266" "0000036142" "0000063267" "0000036143" "0000063268" "0000036144" "0000063269" "0000036145" "0000063270" "0000036146" "0000063271" "0000036147" "0000063272" "0000036148" "0000063273" "0000036149" "0000063274" "0000036150" "0000063275" "0000036151" "0000063276" "0000036152" "0000063277" "0000036153" "0000063278" "0000036154" "0000063279" "0000036155" "0000063280" "0000036156" "0000063281" "0000036157" "0000063282" "0000264159" "0000593745" "0000264159" "0000593746" "0000268176" "0000601040" "0000293403" "0000650092" "0000315535" "0000697624" "0000315710" "0000697799" "0000410604" "0000847948" "0000410604" "0000847981" "0000415763" "0000873654"