### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GEMIN5) # 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}}" "GEMIN5" "gem (nuclear organelle) associated protein 5" "5" "q34" "unknown" "NC_000005.9" "UD_132612601155" "" "https://www.LOVD.nl/GEMIN5" "" "1" "20043" "25929" "607005" "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/GEMIN5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-21 17:34:48" "00000" "2025-07-08 13:22:38" ## 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}}" "00024220" "GEMIN5" "transcript variant 1" "002" "NM_015465.4" "" "NP_056280.2" "" "" "" "-83" "5321" "4527" "154317776" "154266976" "00006" "2017-01-21 17:33:46" "" "" ## 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}}" "05233" "-" "lipodystrophy, congenital, and fatty liver disease" "" "" "" "" "" "00006" "2017-03-05 16:17:19" "" "" ## 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}}" "00095896" "" "" "" "1" "" "00006" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00095896" "05233" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05233 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000078828" "05233" "00095896" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" ## 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}}" "0000096297" "00095896" "1" "00006" "00006" "2017-01-21 17:22:26" "00006" "2017-01-21 17:27:44" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000096297" "BRF1" "0000096297" "GEMIN5" "0000096297" "PCYT1A" ## 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 = 24 "{{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}}" "0000158289" "0" "50" "5" "154308099" "154308099" "subst" "0" "00006" "GEMIN5_000001" "g.154308099G>C" "" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "" "" "" "De novo" "" "" "0" "" "" "g.154928539G>C" "" "VUS" "" "0000330714" "0" "50" "5" "154300977" "154300977" "subst" "0.00139701" "01804" "GEMIN5_000002" "g.154300977T>G" "" "" "" "GEMIN5(NM_001252156.1):c.1385A>C (p.(Gln462Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154921417T>G" "" "VUS" "" "0000330715" "0" "50" "5" "154316671" "154316671" "subst" "0.00165322" "01804" "GEMIN5_000003" "g.154316671G>A" "" "" "" "GEMIN5(NM_001252156.1):c.241C>T (p.(Leu81Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154937111G>A" "" "VUS" "" "0000801985" "0" "50" "5" "154307008" "154307008" "subst" "0" "01943" "GEMIN5_000004" "g.154307008A>T" "" "" "" "GEMIN5(NM_015465.4):c.1017T>A (p.N339K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801986" "0" "50" "5" "154311044" "154311044" "subst" "0.00011782" "01943" "GEMIN5_000005" "g.154311044C>T" "" "" "" "GEMIN5(NM_015465.4):c.755G>A (p.R252Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912272" "0" "30" "5" "154284928" "154284928" "subst" "0.00265355" "02325" "GEMIN5_000006" "g.154284928T>C" "" "" "" "GEMIN5(NM_015465.5):c.2504A>G (p.K835R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948515" "0" "90" "5" "154287172" "154287172" "del" "0" "02325" "GEMIN5_000007" "g.154287172del" "" "" "" "GEMIN5(NM_015465.5):c.2376del (p.(Cys793Valfs*35)), GEMIN5(NM_015465.5):c.2376delC (p.C793Vfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976683" "0" "30" "5" "154275912" "154275912" "subst" "4.02601E-5" "01804" "GEMIN5_000008" "g.154275912C>T" "" "" "" "GEMIN5(NM_015465.5):c.3346-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976684" "0" "50" "5" "154291339" "154291339" "subst" "4.46849E-5" "02327" "GEMIN5_000009" "g.154291339A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976685" "0" "30" "5" "154304125" "154304126" "del" "0" "01804" "GEMIN5_000010" "g.154304125_154304126del" "" "" "" "GEMIN5(NM_015465.5):c.1294-6_1294-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976686" "0" "50" "5" "154305604" "154305604" "subst" "0" "01804" "GEMIN5_000011" "g.154305604A>C" "" "" "" "GEMIN5(NM_015465.5):c.1111T>G (p.(Cys371Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976687" "0" "50" "5" "154311021" "154311021" "subst" "5.74722E-5" "01804" "GEMIN5_000012" "g.154311021G>A" "" "" "" "GEMIN5(NM_015465.5):c.778C>T (p.(Arg260Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994834" "0" "30" "5" "154287201" "154287201" "subst" "0" "01804" "GEMIN5_000013" "g.154287201C>T" "" "" "" "GEMIN5(NM_015465.4):c.2345G>A (p.(Gly782Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994835" "0" "50" "5" "154305423" "154305423" "subst" "0.000102057" "01804" "GEMIN5_000014" "g.154305423G>A" "" "" "" "GEMIN5(NM_015465.4):c.1292C>T (p.(Ala431Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994836" "0" "30" "5" "154317524" "154317524" "subst" "1.58181E-5" "01804" "MRPL22_000001" "g.154317524T>C" "" "" "" "GEMIN5(NM_015465.4):c.166+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035052" "0" "30" "5" "154267946" "154267946" "subst" "9.47414E-5" "01804" "GEMIN5_000015" "g.154267946C>T" "" "" "" "GEMIN5(NM_015465.5):c.4360-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035053" "0" "50" "5" "154271023" "154271025" "del" "0" "01804" "GEMIN5_000016" "g.154271023_154271025del" "" "" "" "GEMIN5(NM_015465.5):c.4043_4045del (p.(Glu1348del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035054" "0" "50" "5" "154278005" "154278005" "subst" "0.000187362" "01804" "GEMIN5_000017" "g.154278005G>C" "" "" "" "GEMIN5(NM_015465.5):c.3340C>G (p.(Leu1114Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035055" "0" "70" "5" "154287172" "154287172" "del" "0" "01804" "GEMIN5_000007" "g.154287172del" "" "" "" "GEMIN5(NM_015465.5):c.2376del (p.(Cys793Valfs*35)), GEMIN5(NM_015465.5):c.2376delC (p.C793Vfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035056" "0" "30" "5" "154299518" "154299518" "subst" "5.32198E-5" "01804" "GEMIN5_000018" "g.154299518A>G" "" "" "" "GEMIN5(NM_015465.5):c.1599+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035057" "0" "50" "5" "154308097" "154308097" "subst" "4.06227E-5" "01804" "GEMIN5_000019" "g.154308097T>C" "" "" "" "GEMIN5(NM_015465.5):c.904A>G (p.(Ser302Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035058" "0" "30" "5" "154317520" "154317520" "subst" "0" "01804" "MRPL22_000002" "g.154317520T>C" "" "" "" "GEMIN5(NM_015465.5):c.166+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046019" "0" "70" "5" "154278839" "154278839" "subst" "0.00464043" "02325" "GEMIN5_000020" "g.154278839G>A" "" "" "" "GEMIN5(NM_015465.5):c.3046C>T (p.R1016C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046020" "0" "30" "5" "154296632" "154296632" "subst" "0.00246458" "02326" "GEMIN5_000021" "g.154296632G>C" "" "" "" "GEMIN5(NM_015465.5):c.1781C>G (p.P594R)" "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 GEMIN5 ## Count = 24 "{{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}}" "0000158289" "00024220" "50" "902" "0" "902" "0" "c.902C>G" "r.(?)" "p.(Ser301Cys)" "6" "0000330714" "00024220" "50" "1388" "0" "1388" "0" "c.1388A>C" "r.(?)" "p.(Gln463Pro)" "" "0000330715" "00024220" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Leu81Phe)" "" "0000801985" "00024220" "50" "1017" "0" "1017" "0" "c.1017T>A" "r.(?)" "p.(Asn339Lys)" "" "0000801986" "00024220" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000912272" "00024220" "30" "2504" "0" "2504" "0" "c.2504A>G" "r.(?)" "p.(Lys835Arg)" "" "0000948515" "00024220" "90" "2376" "0" "2376" "0" "c.2376del" "r.(?)" "p.(Cys793Valfs*35)" "" "0000976683" "00024220" "30" "3346" "-9" "3346" "-9" "c.3346-9G>A" "r.(=)" "p.(=)" "" "0000976684" "00024220" "50" "2115" "0" "2115" "0" "c.2115T>G" "r.(?)" "p.(Phe705Leu)" "" "0000976685" "00024220" "30" "1294" "-6" "1294" "-5" "c.1294-6_1294-5del" "r.spl?" "p.?" "" "0000976686" "00024220" "50" "1111" "0" "1111" "0" "c.1111T>G" "r.(?)" "p.(Cys371Gly)" "" "0000976687" "00024220" "50" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Arg260*)" "" "0000994834" "00024220" "30" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Gly782Glu)" "" "0000994835" "00024220" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ala431Val)" "" "0000994836" "00024220" "30" "166" "4" "166" "4" "c.166+4A>G" "r.spl?" "p.?" "" "0001035052" "00024220" "30" "4360" "-9" "4360" "-9" "c.4360-9G>A" "r.(=)" "p.(=)" "" "0001035053" "00024220" "50" "4043" "0" "4045" "0" "c.4043_4045del" "r.(?)" "p.(Glu1348del)" "" "0001035054" "00024220" "50" "3340" "0" "3340" "0" "c.3340C>G" "r.(?)" "p.(Leu1114Val)" "" "0001035055" "00024220" "70" "2376" "0" "2376" "0" "c.2376del" "r.(?)" "p.(Cys793Valfs*35)" "" "0001035056" "00024220" "30" "1599" "9" "1599" "9" "c.1599+9T>C" "r.(=)" "p.(=)" "" "0001035057" "00024220" "50" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Ser302Gly)" "" "0001035058" "00024220" "30" "166" "8" "166" "8" "c.166+8A>G" "r.(=)" "p.(=)" "" "0001046019" "00024220" "70" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Arg1016Cys)" "" "0001046020" "00024220" "30" "1781" "0" "1781" "0" "c.1781C>G" "r.(?)" "p.(Pro594Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000096297" "0000158289"