### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTC12) # 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}}" "TTC12" "tetratricopeptide repeat domain 12" "11" "q23.2" "unknown" "NC_000011.9" "UD_132319527383" "" "https://www.LOVD.nl/TTC12" "" "1" "23700" "54970" "610732" "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/TTC12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-24 20:01:39" "00000" "2025-11-01 13:22:20" ## 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}}" "00022019" "TTC12" "tetratricopeptide repeat domain 12" "001" "NM_017868.3" "" "NP_060338.3" "" "" "" "-105" "2210" "2118" "113185251" "113237114" "" "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}}" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "06154" "CILD45" "Ciliary dyskinesia, primary, 45" "AR" "618801" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TTC12" "00332" "TTC12" "06154" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00276078" "" "" "" "1" "" "00006" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "DCP791" "00276079" "" "" "" "1" "" "00006" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "18GM00157" "00276080" "" "" "" "1" "" "00006" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "DCP1606" "00276081" "" "" "" "1" "" "00006" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Europe" "DCP153" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00276078" "00332" "00276079" "00332" "00276080" "00332" "00276081" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00332, 06154 ## Count = 4 "{{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}}" "0000210675" "00332" "00276078" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., infertile" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000210676" "00332" "00276079" "00006" "Familial, autosomal recessive" "50y" "see pape; ..., asthma bronchiectasis\trhino-sinusitis" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000210677" "00332" "00276080" "00006" "Familial, autosomal recessive" "11y" "see pape; ..., neonatal respiratory distress, bronchiectasis, pneumopathies, rhino-sinusitis otitis" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000210678" "00332" "00276081" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., infertile, bronchitis, rhino-sinusitis" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000277222" "00276078" "1" "00006" "00006" "2020-01-24 20:17:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000277223" "00276079" "1" "00006" "00006" "2020-01-24 20:17:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000277224" "00276080" "1" "00006" "00006" "2020-01-24 20:17:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000277225" "00276081" "1" "00006" "00006" "2020-01-24 20:17:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000277222" "TTC12" "0000277223" "TTC12" "0000277224" "TTC12" "0000277225" "TTC12" ## 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 = 13 "{{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}}" "0000631987" "3" "90" "11" "113230733" "113230733" "subst" "0" "00006" "TTC12_000003" "g.113230733A>T" "" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "" "" "RNA predicted from minigene splicing assay" "Germline" "" "" "0" "" "" "g.113360011A>T" "" "pathogenic (recessive)" "" "0000631988" "3" "90" "11" "113233186" "113233186" "subst" "5.2809E-5" "00006" "TTC12_000004" "g.113233186C>T" "" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.113362464C>T" "" "pathogenic (recessive)" "" "0000631989" "3" "90" "11" "113209526" "113209526" "del" "0" "00006" "TTC12_000001" "g.113209526del" "" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.113338804del" "" "pathogenic (recessive)" "" "0000631990" "3" "90" "11" "113233208" "113233208" "subst" "6.09439E-5" "00006" "TTC12_000002" "g.113233208T>G" "" "{DOI:Thomas 2020:10.1016/j.ajhg.2019.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.113362486T>G" "" "pathogenic (recessive)" "" "0000804874" "0" "30" "11" "113234603" "113234603" "subst" "0.00128508" "01943" "TTC12_000005" "g.113234603G>A" "" "" "" "TTC12(NM_001352038.1):c.1320G>A (p.T440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804875" "0" "30" "11" "113235788" "113235788" "subst" "0.00157684" "01943" "TTC12_000006" "g.113235788C>G" "" "" "" "TTC12(NM_001352038.1):c.1592+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852755" "0" "30" "11" "113234567" "113234567" "subst" "0" "01943" "TTC12_000007" "g.113234567A>C" "" "" "" "TTC12(NM_001352038.1):c.1284A>C (p.A428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979359" "0" "50" "11" "113194042" "113194042" "subst" "0" "01804" "TTC12_000008" "g.113194042C>T" "" "" "" "TTC12(NM_017868.4):c.91C>T (p.(Pro31Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979360" "0" "30" "11" "113209310" "113209310" "del" "0" "01804" "TTC12_000009" "g.113209310del" "" "" "" "TTC12(NM_001378063.1):c.502-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979361" "0" "50" "11" "113235613" "113235613" "subst" "0.000125947" "01804" "TTC12_000010" "g.113235613G>A" "" "" "" "TTC12(NM_017868.4):c.1873G>A (p.(Ala625Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038212" "0" "50" "11" "113234555" "113234557" "del" "0" "01804" "TTC12_000011" "g.113234555_113234557del" "" "" "" "TTC12(NM_017868.4):c.1722_1724del (p.(Gly575del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054124" "0" "30" "11" "113194708" "113194708" "subst" "0.000490701" "01804" "chr11_008906" "g.113194708G>A" "" "" "" "TTC12(NM_017868.4):c.223-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054125" "0" "30" "11" "113214990" "113214990" "subst" "0.000148308" "01804" "chr11_008907" "g.113214990G>A" "" "" "" "TTC12(NM_017868.4):c.986-4G>A" "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 TTC12 ## Count = 13 "{{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}}" "0000631987" "00022019" "90" "1614" "3" "1614" "3" "c.1614+3A>T" "r.(1546_1614del)" "p.(Val516_Thr538del)" "" "0000631988" "00022019" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000631989" "00022019" "90" "607" "0" "607" "0" "c.607del" "r.(?)" "p.(Ile203*)" "" "0000631990" "00022019" "90" "1700" "0" "1700" "0" "c.1700T>G" "r.(?)" "p.(Met567Arg)" "" "0000804874" "00022019" "30" "1770" "0" "1770" "0" "c.1770G>A" "r.(?)" "p.(Thr590=)" "" "0000804875" "00022019" "30" "2042" "6" "2042" "6" "c.2042+6C>G" "r.(=)" "p.(=)" "" "0000852755" "00022019" "30" "1734" "0" "1734" "0" "c.1734A>C" "r.(?)" "p.(Ala578=)" "" "0000979359" "00022019" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Pro31Ser)" "" "0000979360" "00022019" "30" "577" "-186" "577" "-186" "c.577-186del" "r.(=)" "p.(=)" "" "0000979361" "00022019" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Ala625Thr)" "" "0001038212" "00022019" "50" "1722" "0" "1724" "0" "c.1722_1724del" "r.(?)" "p.(Gly575del)" "" "0001054124" "00022019" "30" "223" "-8" "223" "-8" "c.223-8G>A" "r.(=)" "p.(=)" "" "0001054125" "00022019" "30" "986" "-4" "986" "-4" "c.986-4G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000277222" "0000631987" "0000277223" "0000631988" "0000277224" "0000631989" "0000277225" "0000631990"