### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBC1D20) # 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}}" "TBC1D20" "TBC1 domain family, member 20" "20" "p13" "unknown" "NC_000020.10" "UD_132437324538" "" "http://www.LOVD.nl/TBC1D20" "" "1" "16133" "128637" "611663" "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/TBC1D20_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-12 01:39:38" "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}}" "00020820" "TBC1D20" "TBC1 domain family, member 20" "001" "NM_144628.2" "" "NP_653229.1" "" "" "" "-138" "4318" "1212" "443187" "416124" "" "0000-00-00 00:00:00" "" "" ## 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}}" "04044" "WARBM4" "Warburg micro syndrome, type 4 (WARBM4)" "AR" "615663" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBC1D20" "04044" ## 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}}" "00261173" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00261173" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04044, 05162 ## 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}}" "0000199679" "05162" "00261173" "00006" "Isolated (sporadic)" "9y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); no abnormal prenatal brain imaging; microcephaly (HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271);  small joint hypermobility" "" "" "" "" "" "" "" "" "developmental delay" ## 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}}" "0000262279" "00261173" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000262279" "DLL1" ## 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}}" "0000254492" "0" "30" "20" "422644" "422644" "subst" "5.28146E-5" "01943" "TBC1D20_000004" "g.422644A>T" "" "" "" "TBC1D20(NM_144628.3):c.381T>A (p.I127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.442000A>T" "" "likely benign" "" "0000316243" "0" "10" "20" "422348" "422348" "subst" "0.0481181" "01943" "TBC1D20_000003" "g.422348T>G" "" "" "" "TBC1D20(NM_144628.3):c.525-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.441704T>G" "" "benign" "" "0000316244" "0" "30" "20" "420895" "420895" "subst" "1.65909E-5" "01943" "TBC1D20_000002" "g.420895G>A" "" "" "" "TBC1D20(NM_144628.3):c.765C>T (p.A255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.440251G>A" "" "likely benign" "" "0000316245" "0" "50" "20" "419774" "419774" "subst" "8.17748E-5" "01943" "TBC1D20_000001" "g.419774C>T" "" "" "" "TBC1D20(NM_144628.3):c.934G>A (p.A312T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.439130C>T" "" "VUS" "" "0000342360" "0" "50" "20" "420950" "420950" "subst" "4.06306E-6" "02327" "TBC1D20_000005" "g.420950C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.440306C>T" "" "VUS" "" "0000345025" "0" "90" "20" "425739" "425739" "subst" "0" "02327" "TBC1D20_000006" "g.425739G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.445095G>A" "" "pathogenic" "" "0000349705" "0" "90" "20" "443003" "443003" "subst" "0" "02327" "TBC1D20_000007" "g.443003C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.462359C>T" "" "pathogenic" "" "0000569586" "0" "30" "20" "419934" "419934" "subst" "0" "01943" "TBC1D20_000008" "g.419934C>T" "" "" "" "TBC1D20(NM_144628.3):c.774G>A (p.V258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.439290C>T" "" "likely benign" "" "0000569723" "0" "30" "20" "428523" "428523" "subst" "0.00202888" "01943" "TBC1D20_000009" "g.428523C>T" "" "" "" "TBC1D20(NM_144628.3):c.256+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.447879C>T" "" "likely benign" "" "0000569724" "0" "10" "20" "428553" "428553" "subst" "0.049808" "01943" "TBC1D20_000010" "g.428553T>C" "" "" "" "TBC1D20(NM_144628.2):c.236A>G (p.(Asn79Ser)), TBC1D20(NM_144628.3):c.236A>G (p.N79S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.447909T>C" "" "benign" "" "0000569725" "0" "30" "20" "428626" "428626" "subst" "4.06105E-6" "01943" "TBC1D20_000011" "g.428626T>C" "" "" "" "TBC1D20(NM_144628.3):c.163A>G (p.I55V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.447982T>C" "" "likely benign" "" "0000592565" "0" "70" "20" "428686" "428687" "del" "0" "00006" "TBC1D20_000012" "g.428686_428687del" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "" "0" "" "" "g.448042_448043del" "" "VUS" "" "0000618122" "0" "30" "20" "419299" "419299" "subst" "0.000527923" "01943" "TBC1D20_000013" "g.419299C>T" "" "" "" "TBC1D20(NM_144628.3):c.1143G>A (p.A381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.438655C>T" "" "likely benign" "" "0000618124" "0" "50" "20" "422618" "422618" "subst" "4.87405E-5" "01943" "TBC1D20_000014" "g.422618C>T" "" "" "" "TBC1D20(NM_144628.3):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.441974C>T" "" "VUS" "" "0000658763" "0" "30" "20" "419437" "419437" "subst" "0.000413629" "01943" "TBC1D20_000015" "g.419437C>T" "" "" "" "TBC1D20(NM_144628.3):c.1005G>A (p.Q335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.438793C>T" "" "likely benign" "" "0000727685" "0" "30" "20" "422249" "422249" "subst" "9.74588E-5" "01943" "TBC1D20_000016" "g.422249G>C" "" "" "" "TBC1D20(NM_144628.3):c.609C>G (p.L203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855831" "0" "50" "20" "420894" "420894" "subst" "0.000132561" "01943" "TBC1D20_000017" "g.420894C>T" "" "" "" "TBC1D20(NM_144628.3):c.766G>A (p.V256M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855834" "0" "30" "20" "422243" "422243" "subst" "0" "01943" "TBC1D20_000018" "g.422243G>A" "" "" "" "TBC1D20(NM_144628.3):c.615C>T (p.D205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866463" "0" "10" "20" "428553" "428553" "subst" "0.049808" "01804" "TBC1D20_000010" "g.428553T>C" "" "" "" "TBC1D20(NM_144628.2):c.236A>G (p.(Asn79Ser)), TBC1D20(NM_144628.3):c.236A>G (p.N79S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866512" "0" "30" "20" "442983" "442983" "subst" "0" "01943" "TBC1D20_000019" "g.442983C>A" "" "" "" "TBC1D20(NM_144628.3):c.67G>T (p.A23S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951432" "0" "30" "20" "411155" "411155" "subst" "0" "01804" "RBCK1_000045" "g.411155G>A" "" "" "" "RBCK1(NM_001323956.1):c.*81G>A (p.(=))" "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 TBC1D20 ## 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}}" "0000254492" "00020820" "30" "381" "0" "381" "0" "c.381T>A" "r.(?)" "p.(Ile127=)" "" "0000316243" "00020820" "10" "525" "-15" "525" "-15" "c.525-15A>C" "r.(=)" "p.(=)" "" "0000316244" "00020820" "30" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Ala255=)" "" "0000316245" "00020820" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Ala312Thr)" "" "0000342360" "00020820" "50" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "" "0000345025" "00020820" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Gln98Ter)" "" "0000349705" "00020820" "90" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Trp16Ter)" "" "0000569586" "00020820" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Val258=)" "" "0000569723" "00020820" "30" "256" "10" "256" "10" "c.256+10G>A" "r.(=)" "p.(=)" "" "0000569724" "00020820" "10" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Asn79Ser)" "" "0000569725" "00020820" "30" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Ile55Val)" "" "0000592565" "00020820" "70" "105" "0" "106" "0" "c.105_106del" "r.(?)" "p.(Glu35Aspfs*8)" "" "0000618122" "00020820" "30" "1143" "0" "1143" "0" "c.1143G>A" "r.(?)" "p.(Ala381=)" "" "0000618124" "00020820" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "0000658763" "00020820" "30" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Gln335=)" "" "0000727685" "00020820" "30" "609" "0" "609" "0" "c.609C>G" "r.(?)" "p.(Leu203=)" "" "0000855831" "00020820" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Val256Met)" "" "0000855834" "00020820" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Asp205=)" "" "0000866463" "00020820" "10" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Asn79Ser)" "" "0000866512" "00020820" "30" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Ala23Ser)" "" "0000951432" "00020820" "30" "9287" "0" "9287" "0" "c.*8075C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000262279" "0000592565"