### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPD1L) # 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}}" "GPD1L" "glycerol-3-phosphate dehydrogenase 1-like" "3" "p22.3" "unknown" "LRG_419" "UD_132118967486" "" "https://www.LOVD.nl/GPD1L" "" "1" "28956" "23171" "611778" "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/GPD1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-09-19 10:54:30" "00000" "2025-02-07 18:57:27" ## 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}}" "00008764" "GPD1L" "glycerol-3-phosphate dehydrogenase 1-like" "001" "NM_015141.3" "" "NP_055956.1" "" "" "" "-201" "3861" "1056" "32148003" "32210207" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "03055" "BRGDA2" "Brugada syndrome, type 2 (BRGDA-2)" "" "611777" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GPD1L" "03055" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00128420" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "149" "00128429" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "164" "00128463" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "238" "00128482" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "273" "00446888" "" "" "00446855" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamGPat66" "00453142" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam271Pat291" "00453158" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam321Pat349" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00128420" "00198" "00128429" "00198" "00128463" "00198" "00128482" "00198" "00446888" "04173" "00453142" "04172" "00453158" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03055, 04172, 04173 ## Count = 8 "{{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}}" "0000100639" "00198" "00128420" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100648" "00198" "00128429" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100685" "00198" "00128463" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100704" "00198" "00128482" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100705" "00198" "00128482" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000336092" "04173" "00446888" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341788" "04172" "00453142" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341804" "04172" "00453158" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000129258" "00128420" "1" "02244" "02244" "2017-09-15 16:37:33" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129267" "00128429" "1" "02244" "02244" "2017-09-15 16:53:48" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129301" "00128463" "1" "02244" "02244" "2017-09-15 18:08:39" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129320" "00128482" "1" "02244" "02244" "2017-09-15 18:52:30" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000448463" "00446888" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454753" "00453142" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454769" "00453158" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 66 "{{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}}" "0000218405" "0" "90" "3" "32181723" "32181723" "subst" "0.00256789" "02244" "GPD1L_000001" "g.32181723A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32140231A>G" "" "pathogenic" "" "0000218417" "0" "90" "3" "32181723" "32181723" "subst" "0.00256789" "02244" "GPD1L_000001" "g.32181723A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32140231A>G" "" "pathogenic" "" "0000218462" "0" "90" "3" "32181723" "32181723" "subst" "0.00256789" "02244" "GPD1L_000001" "g.32181723A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32140231A>G" "" "pathogenic" "" "0000218490" "0" "90" "3" "32181723" "32181723" "subst" "0.00256789" "02244" "GPD1L_000001" "g.32181723A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32140231A>G" "" "pathogenic" "" "0000246126" "0" "10" "3" "32169631" "32169631" "subst" "0" "02330" "GPD1L_000004" "g.32169631A>C" "" "" "" "GPD1L(NM_015141.4):c.111A>C (p.T37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128139A>C" "" "benign" "" "0000246127" "0" "10" "3" "32201158" "32201158" "subst" "4.88091E-5" "02330" "GPD1L_000020" "g.32201158A>G" "" "" "" "GPD1L(NM_015141.4):c.951A>G (p.L317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159666A>G" "" "benign" "" "0000246179" "0" "30" "3" "32201178" "32201178" "subst" "4.07193E-6" "02330" "GPD1L_000023" "g.32201178A>C" "" "" "" "GPD1L(NM_015141.4):c.959+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159686A>C" "" "likely benign" "" "0000246200" "0" "50" "3" "32181852" "32181852" "subst" "0" "02330" "GPD1L_000011" "g.32181852A>G" "" "" "" "GPD1L(NM_015141.4):c.499A>G (p.T167A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32140360A>G" "" "VUS" "" "0000277366" "0" "10" "3" "32148194" "32148194" "subst" "0" "02330" "GPD1L_000002" "g.32148194C>G" "" "" "" "GPD1L(NM_015141.4):c.-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32106702C>G" "" "benign" "" "0000277367" "0" "10" "3" "32207420" "32207420" "subst" "0.00376188" "02330" "GPD1L_000022" "g.32207420G>T" "" "" "" "GPD1L(NM_015141.4):c.*18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32165928G>T" "" "benign" "" "0000277368" "0" "50" "3" "32180100" "32180100" "subst" "0.000182905" "02330" "GPD1L_000005" "g.32180100G>A" "" "" "" "GPD1L(NM_015141.3):c.247G>A (p.E83K), GPD1L(NM_015141.4):c.247G>A (p.E83K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32138608G>A" "" "VUS" "" "0000277369" "0" "10" "3" "32180227" "32180227" "subst" "0.00158103" "02330" "GPD1L_000006" "g.32180227G>A" "" "" "" "GPD1L(NM_015141.4):c.366+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32138735G>A" "" "benign" "" "0000277370" "0" "10" "3" "32181749" "32181749" "subst" "0.00156858" "02330" "GPD1L_000007" "g.32181749G>A" "" "" "" "GPD1L(NM_015141.4):c.396G>A (p.K132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32140257G>A" "" "benign" "" "0000277371" "0" "10" "3" "32181761" "32181761" "subst" "0.12331" "02330" "GPD1L_000008" "g.32181761C>T" "" "" "" "GPD1L(NM_015141.4):c.408C>T (p.D136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32140269C>T" "" "benign" "" "0000277372" "0" "10" "3" "32181812" "32181812" "subst" "0.000170666" "02330" "GPD1L_000009" "g.32181812C>T" "" "" "" "GPD1L(NM_015141.3):c.459C>T (p.N153=), GPD1L(NM_015141.4):c.459C>T (p.N153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32140320C>T" "" "benign" "" "0000277373" "0" "10" "3" "32181818" "32181818" "subst" "0.0017758" "02330" "GPD1L_000010" "g.32181818C>T" "" "" "" "GPD1L(NM_015141.4):c.465C>T (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32140326C>T" "" "benign" "" "0000277374" "0" "10" "3" "32188104" "32188104" "subst" "0" "02330" "GPD1L_000012" "g.32188104C>A" "" "" "" "GPD1L(NM_015141.4):c.506-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32146612C>A" "" "benign" "" "0000277375" "0" "10" "3" "32188181" "32188181" "subst" "0.00150268" "02330" "GPD1L_000013" "g.32188181C>G" "" "" "" "GPD1L(NM_015141.4):c.573C>G (p.T191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32146689C>G" "" "benign" "" "0000277376" "0" "30" "3" "32200359" "32200359" "subst" "0.000519781" "02330" "GPD1L_000014" "g.32200359C>G" "" "" "" "GPD1L(NM_015141.4):c.619-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32158867C>G" "" "likely benign" "" "0000277377" "0" "50" "3" "32200407" "32200407" "subst" "2.44934E-5" "02330" "GPD1L_000015" "g.32200407C>T" "" "" "" "GPD1L(NM_015141.4):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32158915C>T" "" "VUS" "" "0000277378" "0" "50" "3" "32200524" "32200524" "subst" "1.22069E-5" "02330" "GPD1L_000016" "g.32200524G>A" "" "" "" "GPD1L(NM_015141.4):c.775G>A (p.G259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159032G>A" "" "VUS" "" "0000277379" "0" "50" "3" "32200566" "32200566" "subst" "4.9136E-5" "02330" "GPD1L_000017" "g.32200566C>T" "" "" "" "GPD1L(NM_015141.4):c.817C>T (p.R273C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159074C>T" "" "VUS" "" "0000277380" "0" "10" "3" "32169601" "32169601" "subst" "0.00131735" "02330" "GPD1L_000003" "g.32169601T>C" "" "" "" "GPD1L(NM_015141.4):c.81T>C (p.N27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128109T>C" "" "benign" "" "0000277381" "0" "50" "3" "32201124" "32201124" "subst" "1.22E-5" "02330" "GPD1L_000018" "g.32201124C>G" "" "" "" "GPD1L(NM_015141.4):c.917C>G (p.A306G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159632C>G" "" "VUS" "" "0000277382" "0" "50" "3" "32201125" "32201125" "subst" "8.13233E-6" "02330" "GPD1L_000019" "g.32201125T>G" "" "" "" "GPD1L(NM_015141.4):c.918T>G (p.A306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159633T>G" "" "VUS" "" "0000277383" "0" "10" "3" "32201182" "32201182" "subst" "0.0467574" "02330" "GPD1L_000021" "g.32201182G>A" "" "" "" "GPD1L(NM_015141.4):c.959+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32159690G>A" "" "benign" "" "0000519003" "0" "30" "3" "32148214" "32148214" "subst" "0" "02327" "GPD1L_000024" "g.32148214C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32106722C>T" "" "likely benign" "" "0000519004" "0" "30" "3" "32169631" "32169631" "subst" "0" "02327" "GPD1L_000004" "g.32169631A>C" "" "" "" "GPD1L(NM_015141.4):c.111A>C (p.T37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32128139A>C" "" "likely benign" "" "0000519005" "0" "30" "3" "32181723" "32181723" "subst" "0.00256789" "02330" "GPD1L_000001" "g.32181723A>G" "" "" "" "GPD1L(NM_015141.3):c.370A>G (p.I124V), GPD1L(NM_015141.4):c.370A>G (p.I124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140231A>G" "" "likely benign" "" "0000519006" "0" "30" "3" "32181723" "32181723" "subst" "0.00256789" "02326" "GPD1L_000001" "g.32181723A>G" "" "" "" "GPD1L(NM_015141.3):c.370A>G (p.I124V), GPD1L(NM_015141.4):c.370A>G (p.I124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140231A>G" "" "likely benign" "" "0000519007" "0" "10" "3" "32181761" "32181761" "subst" "0.12331" "02327" "GPD1L_000008" "g.32181761C>T" "" "" "" "GPD1L(NM_015141.4):c.408C>T (p.D136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140269C>T" "" "benign" "" "0000519008" "0" "10" "3" "32181812" "32181812" "subst" "0.000170666" "02326" "GPD1L_000009" "g.32181812C>T" "" "" "" "GPD1L(NM_015141.3):c.459C>T (p.N153=), GPD1L(NM_015141.4):c.459C>T (p.N153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140320C>T" "" "benign" "" "0000519009" "0" "30" "3" "32181821" "32181821" "subst" "0" "02326" "GPD1L_000025" "g.32181821T>C" "" "" "" "GPD1L(NM_015141.3):c.468T>C (p.N156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140329T>C" "" "likely benign" "" "0000519010" "0" "30" "3" "32200407" "32200407" "subst" "2.44934E-5" "02327" "GPD1L_000015" "g.32200407C>T" "" "" "" "GPD1L(NM_015141.4):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32158915C>T" "" "likely benign" "" "0000519011" "0" "50" "3" "32200429" "32200429" "subst" "0" "02327" "GPD1L_000026" "g.32200429C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32158937C>T" "" "VUS" "" "0000519012" "0" "50" "3" "32201154" "32201154" "subst" "0" "02330" "GPD1L_000027" "g.32201154G>A" "" "" "" "GPD1L(NM_015141.4):c.947G>A (p.G316E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32159662G>A" "" "VUS" "" "0000519013" "0" "50" "3" "32207306" "32207306" "del" "0" "02330" "GPD1L_000028" "g.32207306del" "" "" "" "GPD1L(NM_015141.4):c.960-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32165814del" "" "VUS" "" "0000519014" "0" "10" "3" "32207327" "32207327" "subst" "0.000540102" "02330" "GPD1L_000029" "g.32207327G>A" "" "" "" "GPD1L(NM_015141.4):c.981G>A (p.V327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32165835G>A" "" "benign" "" "0000519015" "0" "10" "3" "32207327" "32207327" "subst" "0.000540102" "02327" "GPD1L_000029" "g.32207327G>A" "" "" "" "GPD1L(NM_015141.4):c.981G>A (p.V327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32165835G>A" "" "benign" "" "0000608489" "0" "30" "3" "32180100" "32180100" "subst" "0.000182905" "02327" "GPD1L_000005" "g.32180100G>A" "" "" "" "GPD1L(NM_015141.3):c.247G>A (p.E83K), GPD1L(NM_015141.4):c.247G>A (p.E83K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32138608G>A" "" "likely benign" "" "0000608490" "0" "30" "3" "32181723" "32181723" "subst" "0.00256789" "02327" "GPD1L_000001" "g.32181723A>G" "" "" "" "GPD1L(NM_015141.3):c.370A>G (p.I124V), GPD1L(NM_015141.4):c.370A>G (p.I124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140231A>G" "" "likely benign" "" "0000608491" "0" "30" "3" "32181812" "32181812" "subst" "0.000170666" "02327" "GPD1L_000009" "g.32181812C>T" "" "" "" "GPD1L(NM_015141.3):c.459C>T (p.N153=), GPD1L(NM_015141.4):c.459C>T (p.N153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32140320C>T" "" "likely benign" "" "0000608492" "0" "50" "3" "32200566" "32200566" "subst" "4.9136E-5" "02327" "GPD1L_000017" "g.32200566C>T" "" "" "" "GPD1L(NM_015141.4):c.817C>T (p.R273C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32159074C>T" "" "VUS" "" "0000608493" "0" "50" "3" "32201085" "32201085" "subst" "1.62772E-5" "02327" "GPD1L_000030" "g.32201085T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32159593T>C" "" "VUS" "" "0000689023" "0" "30" "3" "32181723" "32181723" "subst" "0.00256789" "01943" "GPD1L_000001" "g.32181723A>G" "" "" "" "GPD1L(NM_015141.3):c.370A>G (p.I124V), GPD1L(NM_015141.4):c.370A>G (p.I124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689024" "0" "50" "3" "32181736" "32181736" "subst" "8.12658E-6" "02330" "GPD1L_000031" "g.32181736C>T" "" "" "" "GPD1L(NM_015141.4):c.383C>T (p.P128L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719345" "0" "30" "3" "32148200" "32148200" "subst" "0" "02330" "GPD1L_000032" "g.32148200G>A" "" "" "" "GPD1L(NM_015141.4):c.-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719346" "0" "50" "3" "32180120" "32180120" "subst" "0" "02330" "GPD1L_000033" "g.32180120C>A" "" "" "" "GPD1L(NM_015141.4):c.267C>A (p.D89E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719347" "0" "50" "3" "32200446" "32200446" "subst" "0" "02325" "GPD1L_000034" "g.32200446G>A" "" "" "" "GPD1L(NM_015141.4):c.697G>A (p.G233R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719348" "0" "50" "3" "32207343" "32207343" "subst" "2.43661E-5" "02330" "GPD1L_000035" "g.32207343G>A" "" "" "" "GPD1L(NM_015141.4):c.997G>A (p.E333K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801155" "0" "50" "3" "32180100" "32180100" "subst" "0.000182905" "02326" "GPD1L_000005" "g.32180100G>A" "" "" "" "GPD1L(NM_015141.3):c.247G>A (p.E83K), GPD1L(NM_015141.4):c.247G>A (p.E83K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801156" "0" "30" "3" "32200356" "32200356" "subst" "2.89254E-5" "02326" "GPD1L_000036" "g.32200356T>C" "" "" "" "GPD1L(NM_015141.3):c.619-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850233" "0" "50" "3" "32169683" "32169683" "subst" "0" "02327" "GPD1L_000037" "g.32169683A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850234" "0" "30" "3" "32188128" "32188128" "subst" "0.000199011" "02327" "GPD1L_000038" "g.32188128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850235" "0" "50" "3" "32200446" "32200446" "subst" "0" "02327" "GPD1L_000034" "g.32200446G>A" "" "" "" "GPD1L(NM_015141.4):c.697G>A (p.G233R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850236" "0" "30" "3" "32201092" "32201092" "subst" "0" "02327" "GPD1L_000039" "g.32201092T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850237" "0" "30" "3" "32207381" "32207381" "subst" "0.000357372" "02327" "GPD1L_000040" "g.32207381G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885714" "0" "50" "3" "32207323" "32207323" "subst" "4.06111E-6" "02327" "GPD1L_000041" "g.32207323C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911889" "0" "30" "3" "32169619" "32169619" "subst" "0.000195146" "02326" "GPD1L_000042" "g.32169619A>T" "" "" "" "GPD1L(NM_015141.3):c.99A>T (p.K33N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923903" "0" "30" "3" "32181723" "32181723" "subst" "0.00256789" "02325" "GPD1L_000001" "g.32181723A>G" "" "" "" "GPD1L(NM_015141.3):c.370A>G (p.I124V), GPD1L(NM_015141.4):c.370A>G (p.I124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923904" "0" "50" "3" "32200566" "32200566" "subst" "4.9136E-5" "02325" "GPD1L_000017" "g.32200566C>T" "" "" "" "GPD1L(NM_015141.4):c.817C>T (p.R273C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957925" "0" "90" "3" "32200588" "32200588" "subst" "0.000123273" "00006" "GPD1L_000043" "g.32200588C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32159096C>T" "" "pathogenic" "" "0000989654" "0" "50" "3" "32207323" "32207323" "subst" "4.06111E-6" "02515" "GPD1L_000041" "g.32207323C>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs774304068" "0" "" "" "g.32165831C>A" "" "VUS" "" "0000989830" "0" "50" "3" "32200533" "32200533" "subst" "1.22117E-5" "02515" "GPD1L_000044" "g.32200533G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs746057191" "0" "" "" "g.32159041G>A" "" "VUS" "" "0000993578" "0" "50" "3" "32201081" "32201081" "subst" "0" "01804" "GPD1L_000045" "g.32201081G>T" "" "" "" "GPD1L(NM_015141.3):c.874G>T (p.(Glu292*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024763" "0" "50" "3" "32188185" "32188185" "subst" "8.12236E-6" "02325" "GPD1L_000046" "g.32188185G>A" "" "" "" "GPD1L(NM_015141.4):c.577G>A (p.V193I)" "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 GPD1L ## Count = 66 "{{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}}" "0000218405" "00008764" "90" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000218417" "00008764" "90" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000218462" "00008764" "90" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000218490" "00008764" "90" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000246126" "00008764" "10" "111" "0" "111" "0" "c.111A>C" "r.(?)" "p.(Thr37=)" "" "0000246127" "00008764" "10" "951" "0" "951" "0" "c.951A>G" "r.(?)" "p.(Leu317=)" "" "0000246179" "00008764" "30" "959" "12" "959" "12" "c.959+12A>C" "r.(=)" "p.(=)" "" "0000246200" "00008764" "50" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Thr167Ala)" "" "0000277366" "00008764" "10" "-10" "0" "-10" "0" "c.-10C>G" "r.(?)" "p.(=)" "" "0000277367" "00008764" "10" "1074" "0" "1074" "0" "c.*18G>T" "r.(=)" "p.(=)" "" "0000277368" "00008764" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "" "0000277369" "00008764" "10" "366" "8" "366" "8" "c.366+8G>A" "r.(=)" "p.(=)" "" "0000277370" "00008764" "10" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Lys132=)" "" "0000277371" "00008764" "10" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Asp136=)" "" "0000277372" "00008764" "10" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0000277373" "00008764" "10" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Ala155=)" "" "0000277374" "00008764" "10" "506" "-10" "506" "-10" "c.506-10C>A" "r.(=)" "p.(=)" "" "0000277375" "00008764" "10" "573" "0" "573" "0" "c.573C>G" "r.(?)" "p.(Thr191=)" "" "0000277376" "00008764" "30" "619" "-9" "619" "-9" "c.619-9C>G" "r.(=)" "p.(=)" "" "0000277377" "00008764" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "" "0000277378" "00008764" "50" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Gly259Arg)" "" "0000277379" "00008764" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Cys)" "" "0000277380" "00008764" "10" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(Asn27=)" "" "0000277381" "00008764" "50" "917" "0" "917" "0" "c.917C>G" "r.(?)" "p.(Ala306Gly)" "" "0000277382" "00008764" "50" "918" "0" "918" "0" "c.918T>G" "r.(?)" "p.(Ala306=)" "" "0000277383" "00008764" "10" "959" "16" "959" "16" "c.959+16G>A" "r.(=)" "p.(=)" "" "0000519003" "00008764" "30" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "" "0000519004" "00008764" "30" "111" "0" "111" "0" "c.111A>C" "r.(?)" "p.(Thr37=)" "" "0000519005" "00008764" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000519006" "00008764" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000519007" "00008764" "10" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Asp136=)" "" "0000519008" "00008764" "10" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0000519009" "00008764" "30" "468" "0" "468" "0" "c.468T>C" "r.(?)" "p.(Asn156=)" "" "0000519010" "00008764" "30" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "" "0000519011" "00008764" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000519012" "00008764" "50" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Gly316Glu)" "" "0000519013" "00008764" "50" "960" "0" "960" "0" "c.960del" "r.(?)" "p.(Lys320AsnfsTer80)" "" "0000519014" "00008764" "10" "981" "0" "981" "0" "c.981G>A" "r.(?)" "p.(Val327=)" "" "0000519015" "00008764" "10" "981" "0" "981" "0" "c.981G>A" "r.(?)" "p.(Val327=)" "" "0000608489" "00008764" "30" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "" "0000608490" "00008764" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000608491" "00008764" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0000608492" "00008764" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Cys)" "" "0000608493" "00008764" "50" "878" "0" "878" "0" "c.878T>C" "r.(?)" "p.(Met293Thr)" "" "0000689023" "00008764" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000689024" "00008764" "50" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Pro128Leu)" "" "0000719345" "00008764" "30" "-4" "0" "-4" "0" "c.-4G>A" "r.(?)" "p.(=)" "" "0000719346" "00008764" "50" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Asp89Glu)" "" "0000719347" "00008764" "50" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Arg)" "" "0000719348" "00008764" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Glu333Lys)" "" "0000801155" "00008764" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "" "0000801156" "00008764" "30" "619" "-12" "619" "-12" "c.619-12T>C" "r.(=)" "p.(=)" "" "0000850233" "00008764" "50" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Ile55Val)" "" "0000850234" "00008764" "30" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Glu174Lys)" "" "0000850235" "00008764" "50" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Arg)" "" "0000850236" "00008764" "30" "885" "0" "885" "0" "c.885T>A" "r.(?)" "p.(Asn295Lys)" "" "0000850237" "00008764" "30" "1035" "0" "1035" "0" "c.1035G>T" "r.(?)" "p.(Gln345His)" "" "0000885714" "00008764" "50" "977" "0" "977" "0" "c.977C>A" "r.(?)" "p.(Ala326Glu)" "" "0000911889" "00008764" "30" "99" "0" "99" "0" "c.99A>T" "r.(?)" "p.(Lys33Asn)" "" "0000923903" "00008764" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0000923904" "00008764" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Cys)" "" "0000957925" "00008764" "90" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ala280Val)" "" "0000989654" "00008764" "50" "977" "0" "977" "0" "c.977C>A" "r.(?)" "p.(Ala326Glu)" "" "0000989830" "00008764" "50" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "" "0000993578" "00008764" "50" "874" "0" "874" "0" "c.874G>T" "r.(?)" "p.(Glu292*)" "" "0001024763" "00008764" "50" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Val193Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000129258" "0000218405" "0000129267" "0000218417" "0000129301" "0000218462" "0000129320" "0000218490" "0000448463" "0000957925" "0000454753" "0000989654" "0000454769" "0000989830"