### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A19) # 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}}" "SLC25A19" "solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19" "17" "q25.1" "unknown" "NG_008274.1" "UD_132118647767" "" "https://www.LOVD.nl/SLC25A19" "" "1" "14409" "60386" "606521" "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/SLC25A19_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-09 20:51:06" "00000" "2025-05-05 21:14:00" ## 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}}" "00019201" "SLC25A19" "transcript variant 2" "002" "NM_021734.4" "" "NP_068380.3" "" "" "" "-208" "1434" "963" "73285530" "73269061" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01013" "MCPHA" "microcephaly, Amish type (MCPHA)" "AR" "607196" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01014" "THMD4" "Thiamine metabolism dysfunction syndrome, type 4 (THMD-4)" "AR" "613710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05546" "THMD" "thiamine metabolism dysfunction syndrome (THMD)" "" "" "" "" "" "00006" "2019-01-09 21:16:25" "00006" "2019-03-09 20:32:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A19" "01013" "SLC25A19" "01014" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00207883" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat11" "00208793" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00213102" "" "" "" "16" "" "00006" "{PMID:Rosenberg 2002:12185364}" "23 nuclear families connected to a single ancestral couple, 16 affected" "F;M" "yes" "United States" "" "0" "" "" "Amish" "12185364-Fams" "00213103" "" "" "" "4" "" "00006" "{PMID:Spiegel 2009:19798730}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "19798730-Fam" "00213107" "" "" "" "1" "" "00006" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "F" "yes" "Germany" "" "0" "" "" "white" "28856750-Pat75" "00226659" "" "" "" "4" "" "00006" "{PMID:Ortigoza-Escobar 2017:28856750}" "2-generation family, 42 affected, unaffected heterozygous carrier parents" "" "yes" "Israel" "" "0" "" "" "Arab" "P71" "00226660" "" "" "00226659" "1" "" "00006" "{PMID:Ortigoza-Escobar 2017:28856750}" "P72" "" "yes" "Israel" "" "0" "" "" "Arab" "P72" "00226661" "" "" "00226659" "1" "" "00006" "{PMID:Ortigoza-Escobar 2017:28856750}" "P73" "" "yes" "Israel" "" "0" "" "" "Arab" "P73" "00226662" "" "" "00226659" "1" "" "00006" "{PMID:Ortigoza-Escobar 2017:28856750}" "P74" "" "yes" "Israel" "" "0" "" "" "Arab" "P74" "00226663" "" "" "" "1" "" "00006" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "yes" "Germany" "" "0" "" "" "white, European" "P75" "00291842" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361609" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG1007" "00374856" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5807" "00458019" "" "" "" "2" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "" "" "0" "" "" "Hispanic" "FamPat13(II2)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00207883" "00198" "00213102" "01013" "00213103" "05546" "00213107" "05546" "00226659" "05546" "00226660" "05546" "00226661" "05546" "00226662" "05546" "00226663" "05546" "00291842" "00198" "00361609" "00139" "00374856" "00198" "00458019" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01013, 01014, 05546 ## Count = 13 "{{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}}" "0000155667" "00198" "00207883" "00006" "Familial, autosomal recessive" "" "Global developmental delay; episodic metabolic acidosis; abnormal thalamic MRI signal intensity" "" "" "" "" "" "" "" "" "THMD-4" "" "" "0000157406" "00198" "00208793" "01164" "Unknown" "" "HP:0011805 (Abnormality of muscle morphology); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000161583" "01013" "00213102" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCPHA" "microcephaly, Amish type" "" "0000161584" "05546" "00213103" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "THMD-4" "neuropathy, bilateral striatal necrosis" "" "0000161585" "05546" "00213107" "00006" "Familial, autosomal recessive" "21y" "see paper; ..." "01y08m" "" "" "" "" "" "" "" "" "" "" "0000171771" "05546" "00226659" "00006" "Familial, autosomal recessive" "14y" "encephalopathy, hypotonia, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, ADHD" "6y" "" "febrile illness" "" "" "" "" "" "THMD-4" "bilateral striatal necrosis and neuropathy" "" "0000171772" "05546" "00226660" "00006" "Familial, autosomal recessive" "14y" "encephalopathy, hypotonia; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, ADHD" "6y6m" "" "febrile illness" "" "" "" "" "" "THMD-4" "bilateral striatal necrosis and neuropathy" "" "0000171773" "05546" "00226661" "00006" "Familial, autosomal recessive" "26y" "encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, movement disorder" "3y6m" "" "febrile illness" "" "" "" "" "" "THMD-4" "bilateral striatal necrosis and neuropathy" "" "0000171774" "05546" "00226662" "00006" "Familial, autosomal recessive" "24y" "encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus; outcome: peripheral neuropathy, movement disorder" "4y" "" "febrile illness" "" "" "" "" "" "THMD-4" "bilateral striatal necrosis and neuropathy" "" "0000171775" "05546" "00226663" "00006" "Familial, autosomal recessive" "21y" "encephalopathy, tremor, dystonia, opistothonus, vertigo, ataxia, dysphagia; neuroimaging abnormalities: caudate, putamen, globus pallidus, corticosubcortical" "20m" "" "otitis media" "" "" "" "" "" "THMD-4" "bilateral striatal necrosis" "" "0000257014" "00139" "00361609" "00006" "Familial, autosomal recessive" "" "not syndromic; intellectual disability, Microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000270066" "00198" "00374856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000346469" "00198" "00458019" "00006" "Familial, autosomal recessive" "0.3y" "see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208925" "00207883" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000209842" "00208793" "1" "01164" "01164" "2018-12-17 10:13:33" "" "" "SEQ-NG" "DNA" "" "" "0000214177" "00213102" "1" "00006" "00006" "2019-01-09 21:10:06" "" "" "arraySNP;SEQ" "DNA" "" "" "0000214178" "00213103" "1" "00006" "00006" "2019-01-09 21:20:56" "" "" "arraySNP;SEQ" "DNA" "" "" "0000214182" "00213107" "1" "00006" "00006" "2019-01-10 08:32:38" "" "" "SEQ" "DNA" "" "" "0000227747" "00226659" "1" "00006" "00006" "2019-03-09 21:20:59" "" "" "SEQ" "DNA" "" "" "0000227748" "00226660" "1" "00006" "00006" "2019-03-09 21:20:59" "" "" "SEQ" "DNA" "" "" "0000227749" "00226661" "1" "00006" "00006" "2019-03-09 21:20:59" "" "" "SEQ" "DNA" "" "" "0000227750" "00226662" "1" "00006" "00006" "2019-03-09 21:20:59" "" "" "SEQ" "DNA" "" "" "0000227751" "00226663" "1" "00006" "00006" "2019-03-09 21:20:59" "" "" "SEQ" "DNA" "" "" "0000293010" "00291842" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362837" "00361609" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000376050" "00374856" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000459639" "00458019" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000208925" "SLC25A19" "0000214177" "SLC25A19" "0000214178" "SLC25A19" "0000214182" "SLC25A19" "0000227747" "SLC25A19" "0000227748" "SLC25A19" "0000227749" "SLC25A19" "0000227750" "SLC25A19" "0000227751" "SLC25A19" "0000362837" "SLC25A19" "0000376050" "SLC25A19" ## 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 = 38 "{{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}}" "0000247974" "0" "10" "17" "73279624" "73279624" "subst" "0.964156" "02325" "SLC25A19_000007" "g.73279624A>G" "" "" "" "SLC25A19(NM_001126121.2):c.339T>C (p.Y113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75283543A>G" "" "benign" "" "0000249230" "0" "10" "17" "73269530" "73269530" "subst" "0.930635" "02325" "SLC25A19_000001" "g.73269530A>G" "" "" "" "MIF4GD-DT(NR_036520.1):n.2151A>G, SLC25A19(NM_001126121.2):c.*2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273449A>G" "" "benign" "" "0000253235" "0" "10" "17" "73279624" "73279624" "subst" "0.964156" "01943" "SLC25A19_000007" "g.73279624A>G" "" "" "" "SLC25A19(NM_001126121.2):c.339T>C (p.Y113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75283543A>G" "" "benign" "" "0000253289" "0" "10" "17" "73269530" "73269530" "subst" "0.930635" "01943" "SLC25A19_000001" "g.73269530A>G" "" "" "" "MIF4GD-DT(NR_036520.1):n.2151A>G, SLC25A19(NM_001126121.2):c.*2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273449A>G" "" "benign" "" "0000298264" "0" "10" "17" "73269676" "73269676" "subst" "0.664988" "02325" "SLC25A19_000002" "g.73269676C>T" "" "" "" "MIF4GD-DT(NR_036520.1):n.2297C>T, SLC25A19(NM_001126121.2):c.819G>A (p.L273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273595C>T" "" "benign" "" "0000308307" "0" "50" "17" "73282721" "73282721" "subst" "0" "01943" "SLC25A19_000008" "g.73282721C>T" "" "" "" "SLC25A19(NM_001126121.2):c.125G>A (p.R42H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75286640C>T" "" "VUS" "" "0000308308" "0" "30" "17" "73274400" "73274400" "subst" "8.13352E-6" "01943" "SLC25A19_000006" "g.73274400C>T" "" "" "" "SLC25A19(NM_001126121.2):c.476G>A (p.(Arg159His)), SLC25A19(NM_001126122.1):c.476G>A (p.R159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75278319C>T" "" "likely benign" "" "0000308309" "0" "30" "17" "73274393" "73274393" "subst" "0.00055298" "01943" "SLC25A19_000005" "g.73274393G>A" "" "" "" "SLC25A19(NM_001126122.1):c.483C>T (p.A161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75278312G>A" "" "likely benign" "" "0000308310" "0" "10" "17" "73274215" "73274215" "subst" "0.0138708" "01943" "SLC25A19_000004" "g.73274215G>A" "" "" "" "SLC25A19(NM_001126121.2):c.643+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75278134G>A" "" "benign" "" "0000308311" "0" "90" "17" "73273488" "73273488" "del" "1.21821E-5" "01943" "SLC25A19_000003" "g.73273488del" "" "" "" "SLC25A19(NM_001126121.2):c.720del (p.(Phe240Leufs*51)), SLC25A19(NM_021734.4):c.720delC (p.F240Lfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75277407del" "" "pathogenic" "" "0000308312" "0" "10" "17" "73269676" "73269676" "subst" "0.664988" "01943" "SLC25A19_000002" "g.73269676C>T" "" "" "" "MIF4GD-DT(NR_036520.1):n.2297C>T, SLC25A19(NM_001126121.2):c.819G>A (p.L273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273595C>T" "" "benign" "" "0000438957" "1" "90" "17" "73274381" "73274381" "subst" "4.06309E-6" "00006" "SLC25A19_000009" "g.73274381C>T" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.75278300C>T" "" "pathogenic" "" "0000438958" "2" "90" "17" "73267002" "73271501" "del" "0" "00006" "SLC25A19_000010" "g.73267002_73271501del" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.75270921_75275420del" "" "pathogenic (recessive)" "" "0000440065" "0" "70" "17" "73273488" "73273488" "del" "1.21821E-5" "01164" "SLC25A19_000003" "g.73273488del" "" "" "" "" "ACMG grading: PVS1,PM2; not regarded causative for phenotype, no second variant in SLC25A19 detected" "Germline" "" "rs773629986" "0" "" "" "g.75277407del" "" "likely pathogenic" "ACMG" "0000446112" "3" "90" "17" "73274346" "73274346" "subst" "0" "00006" "SLC25A19_000011" "g.73274346C>G" "" "{PMID:Rosenberg 2002:12185364}, {OMIM606521:0001}" "" "" "" "Germline" "yes" "rs119473030" "0" "" "" "g.75278265C>G" "" "pathogenic (recessive)" "" "0000446113" "3" "90" "17" "73279590" "73279590" "subst" "0" "00006" "SLC25A19_000012" "g.73279590C>T" "" "{PMID:Spiegel 2009:19798730}, {OMIM606521:0002}" "" "" "shared 4 Mb homozygous region" "Germline" "yes" "rs387906944" "0" "" "" "g.75283509C>T" "" "pathogenic (recessive)" "" "0000446115" "3" "90" "17" "73274296" "73274296" "subst" "4.06124E-6" "00006" "SLC25A19_000013" "g.73274296A>G" "" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "" "Germline" "" "" "0" "" "" "g.75278215A>G" "" "pathogenic (recessive)" "" "0000467983" "3" "90" "17" "73279590" "73279590" "subst" "0" "00006" "SLC25A19_000012" "g.73279590C>T" "" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "" "Germline" "" "" "0" "" "" "g.75283509C>T" "" "pathogenic (recessive)" "" "0000467984" "3" "90" "17" "73279590" "73279590" "subst" "0" "00006" "SLC25A19_000012" "g.73279590C>T" "" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "" "Germline" "" "" "0" "" "" "g.75283509C>T" "" "pathogenic (recessive)" "" "0000467985" "3" "90" "17" "73279590" "73279590" "subst" "0" "00006" "SLC25A19_000012" "g.73279590C>T" "" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "" "Germline" "" "" "0" "" "" "g.75283509C>T" "" "pathogenic (recessive)" "" "0000467986" "3" "90" "17" "73279590" "73279590" "subst" "0" "00006" "SLC25A19_000012" "g.73279590C>T" "" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "" "Germline" "" "" "0" "" "" "g.75283509C>T" "" "pathogenic (recessive)" "" "0000467987" "3" "90" "17" "73274296" "73274296" "subst" "4.06124E-6" "00006" "SLC25A19_000013" "g.73274296A>G" "" "{PMID:Ortigoza-Escobar 2017:28856750}" "" "" "" "Germline" "" "" "0" "" "" "g.75278215A>G" "" "pathogenic (recessive)" "" "0000562988" "0" "50" "17" "73263930" "73263930" "subst" "0" "01943" "MIF4GD_000001" "g.73263930C>T" "" "" "" "MIF4GD(NM_001242498.1):c.368G>A (p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75267849C>T" "" "VUS" "" "0000562989" "0" "30" "17" "73269592" "73269592" "subst" "4.0627E-6" "01943" "MIF4GD_000002" "g.73269592G>A" "" "" "" "SLC25A19(NM_001126121.2):c.903C>T (p.F301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75273511G>A" "" "likely benign" "" "0000562990" "0" "50" "17" "73279534" "73279534" "del" "0" "01943" "SLC25A19_000014" "g.73279534del" "" "" "" "SLC25A19(NM_001126121.2):c.429delC (p.T144Pfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75283453del" "" "VUS" "" "0000562991" "0" "10" "17" "73279700" "73279700" "subst" "0.998186" "01943" "SLC25A19_000015" "g.73279700C>T" "" "" "" "SLC25A19(NM_001126121.2):c.289-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75283619C>T" "" "benign" "" "0000616807" "0" "50" "17" "73269698" "73269698" "subst" "0.000495899" "01943" "MIF4GD_000003" "g.73269698A>C" "" "" "" "SLC25A19(NM_001126121.2):c.797T>G (p.(Met266Arg)), SLC25A19(NM_001126122.1):c.797T>G (p.M266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75273617A>C" "" "VUS" "" "0000649699" "1" "70" "17" "73274371" "73274371" "subst" "4.06256E-6" "03575" "SLC25A19_000016" "g.73274371C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs759157320}" "Germline" "" "rs759157320" "0" "" "" "g.75278290C>T" "" "likely pathogenic" "" "0000681007" "0" "50" "17" "73282519" "73282519" "subst" "1.21833E-5" "01943" "SLC25A19_000017" "g.73282519G>A" "" "" "" "SLC25A19(NM_021734.4):c.154C>T (p.R52C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726663" "0" "30" "17" "73269653" "73269653" "subst" "0.000138082" "01943" "MIF4GD_000004" "g.73269653A>C" "" "" "" "SLC25A19(NM_001126121.2):c.842T>G (p.(Phe281Cys)), SLC25A19(NM_021734.4):c.842T>G (p.F281C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763211" "3" "70" "17" "73274371" "73274371" "subst" "4.06256E-6" "00006" "SLC25A19_000016" "g.73274371C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.75278290C>T" "" "likely pathogenic" "ACMG" "0000787401" "3" "50" "17" "73269626" "73269626" "subst" "8.12255E-6" "00006" "SLC25A19_000018" "g.73269626A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs750590533" "0" "" "" "g.75273545A>T" "" "VUS" "" "0000982782" "0" "50" "17" "73269698" "73269698" "subst" "0.000495899" "01804" "MIF4GD_000003" "g.73269698A>C" "" "" "" "SLC25A19(NM_001126121.2):c.797T>G (p.(Met266Arg)), SLC25A19(NM_001126122.1):c.797T>G (p.M266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982783" "0" "70" "17" "73273488" "73273488" "del" "1.21821E-5" "01804" "SLC25A19_000003" "g.73273488del" "" "" "" "SLC25A19(NM_001126121.2):c.720del (p.(Phe240Leufs*51)), SLC25A19(NM_021734.4):c.720delC (p.F240Lfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982784" "0" "50" "17" "73274400" "73274400" "subst" "8.13352E-6" "01804" "SLC25A19_000006" "g.73274400C>T" "" "" "" "SLC25A19(NM_001126121.2):c.476G>A (p.(Arg159His)), SLC25A19(NM_001126122.1):c.476G>A (p.R159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017722" "3" "70" "17" "73274286" "73274286" "subst" "0.000174645" "00006" "SLC25A19_000019" "g.73274286C>A" "" "{PMID:Peng 2017:29040572}" "" "" "" "Germline" "" "" "0" "" "" "g.75278205C>A" "" "VUS" "" "0001042157" "0" "50" "17" "73269653" "73269653" "subst" "0.000138082" "01804" "MIF4GD_000004" "g.73269653A>C" "" "" "" "SLC25A19(NM_001126121.2):c.842T>G (p.(Phe281Cys)), SLC25A19(NM_021734.4):c.842T>G (p.F281C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042158" "0" "50" "17" "73282773" "73282773" "subst" "6.90322E-5" "01804" "SLC25A19_000020" "g.73282773A>C" "" "" "" "SLC25A19(NM_001126121.2):c.73T>G (p.(Ser25Ala))" "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 SLC25A19 ## Count = 38 "{{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}}" "0000247974" "00019201" "10" "339" "0" "339" "0" "c.339T>C" "r.(?)" "p.(Tyr113=)" "" "0000249230" "00019201" "10" "965" "0" "965" "0" "c.*2T>C" "r.(=)" "p.(=)" "" "0000253235" "00019201" "10" "339" "0" "339" "0" "c.339T>C" "r.(?)" "p.(Tyr113=)" "" "0000253289" "00019201" "10" "965" "0" "965" "0" "c.*2T>C" "r.(=)" "p.(=)" "" "0000298264" "00019201" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Leu273=)" "" "0000308307" "00019201" "50" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42His)" "" "0000308308" "00019201" "30" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000308309" "00019201" "30" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Ala161=)" "" "0000308310" "00019201" "10" "643" "18" "643" "18" "c.643+18C>T" "r.(=)" "p.(=)" "" "0000308311" "00019201" "90" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Phe240LeufsTer51)" "" "0000308312" "00019201" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Leu273=)" "" "0000438957" "00019201" "90" "495" "0" "495" "0" "c.495G>A" "r.(?)" "p.(Met165Ile)" "" "0000438958" "00019201" "90" "775" "-1780" "3494" "0" "c.775-1780_*2531del" "r.0?" "p.0?" "" "0000440065" "00019201" "70" "720" "0" "720" "0" "c.720del" "r.(?)" "p.Phe240Leufs*51" "" "0000446112" "00019201" "90" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Gly177Ala)" "" "0000446113" "00019201" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Ser)" "" "0000446115" "00019201" "90" "580" "0" "580" "0" "c.580T>C" "r.(?)" "p.(Ser194Pro)" "" "0000467983" "00019201" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Ser)" "5" "0000467984" "00019201" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Ser)" "5" "0000467985" "00019201" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Ser)" "5" "0000467986" "00019201" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Gly125Ser)" "5" "0000467987" "00019201" "90" "580" "0" "580" "0" "c.580T>C" "r.(?)" "p.(Ser194Pro)" "6" "0000562988" "00019201" "50" "6565" "0" "6565" "0" "c.*5602G>A" "r.(=)" "p.(=)" "" "0000562989" "00019201" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(Phe301=)" "" "0000562990" "00019201" "50" "429" "0" "429" "0" "c.429del" "r.(?)" "p.(Thr144ProfsTer39)" "" "0000562991" "00019201" "10" "289" "-26" "289" "-26" "c.289-26G>A" "r.(=)" "p.(=)" "" "0000616807" "00019201" "50" "797" "0" "797" "0" "c.797T>G" "r.(?)" "p.(Met266Arg)" "" "0000649699" "00019201" "70" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Glu169Lys)" "" "0000681007" "00019201" "50" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52Cys)" "" "0000726663" "00019201" "30" "842" "0" "842" "0" "c.842T>G" "r.(?)" "p.(Phe281Cys)" "" "0000763211" "00019201" "70" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Glu169Lys)" "" "0000787401" "00019201" "50" "869" "0" "869" "0" "c.869T>A" "r.(?)" "p.(Leu290Gln)" "8" "0000982782" "00019201" "50" "797" "0" "797" "0" "c.797T>G" "r.(?)" "p.(Met266Arg)" "" "0000982783" "00019201" "70" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Phe240LeufsTer51)" "" "0000982784" "00019201" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0001017722" "00019201" "70" "590" "0" "590" "0" "c.590G>T" "r.(?)" "p.(Ser197Ile)" "" "0001042157" "00019201" "50" "842" "0" "842" "0" "c.842T>G" "r.(?)" "p.(Phe281Cys)" "" "0001042158" "00019201" "50" "73" "0" "73" "0" "c.73T>G" "r.(?)" "p.(Ser25Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000208925" "0000438957" "0000208925" "0000438958" "0000209842" "0000440065" "0000214177" "0000446112" "0000214178" "0000446113" "0000214182" "0000446115" "0000227747" "0000467983" "0000227748" "0000467984" "0000227749" "0000467985" "0000227750" "0000467986" "0000227751" "0000467987" "0000293010" "0000649699" "0000362837" "0000763211" "0000376050" "0000787401" "0000459639" "0001017722"