### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GTPBP3) # 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}}" "GTPBP3" "GTP binding protein 3 (mitochondrial)" "19" "p13.2" "unknown" "NG_027824.1" "UD_132119125581" "" "https://www.LOVD.nl/GTPBP3" "" "1" "14880" "84705" "608536" "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/GTPBP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-25 09:47:02" "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}}" "00009050" "GTPBP3" "transcript variant V" "003" "NM_032620.3" "" "NP_116009.2" "" "" "" "-95" "2507" "1479" "17448326" "17453540" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04496" "COXPD23" "oxidative phosphorylation deficiency, combined, type 23 (COXPD-23)" "AR" "616198" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GTPBP3" "04496" "GTPBP3" "05316" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00305941" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "40" "00410357" "" "" "" "1" "" "00006" "{PMID:Yan 2021:34276756}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "China" "" "0" "" "" "" "Pat1" "00410358" "" "" "" "1" "" "00006" "{PMID:Yan 2021:34276756}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat2" "00410359" "" "" "" "1" "" "00006" "{PMID:Yan 2021:34276756}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat3" "00410360" "" "" "" "1" "" "00006" "{PMID:Wang 2022:35413567}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00410418" "" "" "" "2" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "49665" "00410419" "" "" "00410418" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "brother" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "36349" "00410420" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Israel" "" "0" "" "" "Arab;Moslem" "66143" "00410421" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "8m" "0" "" "" "" "72425" "00410422" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "1d" "0" "" "" "" "75191" "00410423" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "10m" "0" "" "" "" "76671" "00410424" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, two healthy siblings, one miscarriage, unaffected heterozygous carrier parents" "M" "yes" "Romania" "35d" "0" "" "" "" "81471" "00410425" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "75168" "00410426" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "82790" "00410427" "" "" "" "2" "" "00006" "{PMID:Kopajtich 2014:25434004}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "9m" "0" "" "" "" "83904" "00410428" "" "" "00410427" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "sister" "F" "yes" "Turkey" "10d" "0" "" "" "" "83905" "00410429" "" "" "" "1" "" "00006" "{PMID:Kopajtich 2014:25434004}" "" "F" "no" "" "" "0" "" "" "" "66654" "00467640" "" "" "" "2" "" "00006" "{PMID:Elmas 2019:30426380}" "family, 3 affected 2F, M), unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Pat24" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00305941" "04496" "00410357" "05316" "00410358" "05316" "00410359" "05316" "00410360" "05316" "00410418" "00198" "00410419" "00198" "00410420" "00198" "00410421" "00198" "00410422" "00198" "00410423" "00198" "00410424" "00198" "00410425" "00198" "00410426" "00198" "00410427" "00198" "00410428" "00198" "00410429" "00198" "00467640" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04496, 05316 ## Count = 18 "{{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}}" "0000231791" "04496" "00305941" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302461" "05316" "00410357" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "COXPD23" "combined oxidative phosphorylation deficiency" "" "0000302462" "05316" "00410358" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "COXPD23" "combined oxidative phosphorylation deficiency" "" "0000302463" "05316" "00410359" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "COXPD23" "combined oxidative phosphorylation deficiency" "" "0000302464" "05316" "00410360" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., hypertrophic cardiomyopathy, hyperlactatemia" "" "" "" "" "" "" "" "" "COXPD23" "hypertrophic cardiomyopathy, hyperlactatemia" "" "0000302523" "00198" "00410418" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., hypertrophic cardiomyopathy, mild intellectual disability, fatigability, limited vision, lactic acidosis" "10y" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302524" "00198" "00410419" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., mild intellectual disability, fatigability, limited vision, lactic acidosis" "" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302525" "00198" "00410420" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., hypertrophic cardiomyopathy, sudden respiratory failure, lactic acidosis" "2y" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302526" "00198" "00410421" "00006" "Familial, autosomal recessive" "8m" "see paper; ..., 8m-deceased, dilated cardiomyopathy, cyanosis, hyporeactivity, dilated cardiomyopathy (residual ejection fraction 0.20) lactic acidosis" "3m15d" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302527" "00198" "00410422" "00006" "Familial, autosomal recessive" "1d" "see paper; ..., 1d-deceased, hypertrophic cardiomyopathy, Kussmaul breathing, stridor, hypotonic, hyporeactivity, right ventricular hypertrophy, lactid acidosis" "1d" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302528" "00198" "00410423" "00006" "Familial, autosomal recessive" "10m" "see paper; ..., 10m-deceased, hypertrophic cardiomyopathy, hypotonia from birth, right ventricular hypertrophy, Wolff-Parkinson-White syndrome, lactic acidosis" "1d" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302529" "00198" "00410424" "00006" "Familial, autosomal recessive" "35d" "see paper; ..., 5w-deceased, hypertrophic cardiomyopathy, failure to thrive, poor weight gain and feeding, concentric left ventricular hypertrophy, lactic acidosis" "28d" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302530" "00198" "00410425" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., no hypertrophic cardiomyopathy, developmental delay, epileptic seizures, intellectual disability, MRI hyperintense lesions of basal ganglia typical to Leigh syndrome, lactic acidosis" "2y" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302531" "00198" "00410426" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., no hypertrophic cardiomyopathy, seizures, severe hypotonia, developmental delay, lactic acidosis" "1y" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302532" "00198" "00410427" "00006" "Familial, autosomal recessive" "9m" "see paper; ..., 9m-deceased, hypertrophic cardiomyopathy, lactic acidosis, Wolff-Parkinson-White syndrome" "7d" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302533" "00198" "00410428" "00006" "Familial, autosomal recessive" "10d" "see paper; ..., 10d-deceased, hypertrophic cardiomyopathy, lactic acidosis, Wolff-Parkinson-White syndrome" "1d" "" "" "" "" "" "" "" "COXPD23" "suspected mitochondriopathy" "" "0000302534" "00198" "00410429" "00006" "Unknown" "1m15d" "see paper; ..., no hypertrophic cardiomyopathy, intrauterine growth retardation, lactic acidosis, leukodystrophy, generalized hypotonia" "1m15d" "" "" "" "" "" "" "" "" "suspected mitochondriopathy" "" "0000352852" "00198" "00467640" "00006" "Familial, autosomal recessive" "10y3m" "see paper; ..., neurological disorders; mental motor retardation, seizure, spasticity in lower extremities, severe learning disability, thrombocytopenia; MRI delayed myelination; no cardiac anomalies" "3m" "" "" "" "" "" "" "" "COXPD23" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000307072" "00305941" "1" "03695" "03695" "2020-07-06 00:49:57" "" "" "SEQ-NG" "DNA" "" "" "0000411621" "00410357" "1" "00006" "00006" "2022-05-25 10:00:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411622" "00410358" "1" "00006" "00006" "2022-05-25 10:00:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411623" "00410359" "1" "00006" "00006" "2022-05-25 10:00:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411624" "00410360" "1" "00006" "00006" "2022-05-25 10:00:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411681" "00410418" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411682" "00410419" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ" "DNA" "" "" "0000411683" "00410420" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411684" "00410421" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411685" "00410422" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411686" "00410423" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000411687" "00410424" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411688" "00410425" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411689" "00410426" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411690" "00410427" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411691" "00410428" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411692" "00410429" "1" "00006" "00006" "2022-05-26 09:28:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469305" "00467640" "1" "00006" "00006" "2025-10-24 22:46:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000307072" "GTPBP3" ## 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 = 54 "{{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}}" "0000255570" "0" "90" "19" "17451999" "17451999" "del" "0" "01943" "GTPBP3_000002" "g.17451999del" "" "" "" "GTPBP3(NM_133644.3):c.1217delA (p.N406Tfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17341190del" "" "pathogenic" "" "0000288885" "0" "50" "19" "17449510" "17449510" "subst" "4.0822E-6" "01943" "GTPBP3_000001" "g.17449510T>G" "" "" "" "GTPBP3(NM_133644.3):c.551T>G (p.L184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17338701T>G" "" "VUS" "" "0000566549" "0" "30" "19" "17443831" "17443831" "subst" "0.000434924" "01804" "ANO8_000002" "g.17443831C>T" "" "" "" "ANO8(NM_020959.2):c.494G>A (p.(Arg165His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17333022C>T" "" "likely benign" "" "0000566550" "0" "50" "19" "17445833" "17445833" "del" "0" "01943" "ANO8_000003" "g.17445833del" "" "" "" "GTPBP3(NM_001195422.1):c.21delT (p.H9Tfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17335024del" "" "VUS" "" "0000617448" "0" "50" "19" "17448814" "17448814" "subst" "0" "01943" "ANO8_000004" "g.17448814C>T" "" "" "" "GTPBP3(NM_133644.3):c.54-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17338005C>T" "" "VUS" "" "0000617449" "0" "30" "19" "17449019" "17449019" "subst" "0.000310202" "01804" "ANO8_000005" "g.17449019C>T" "" "" "" "GTPBP3(NM_001128855.2):c.256C>T (p.(Arg86Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17338210C>T" "" "likely benign" "" "0000617450" "0" "30" "19" "17449443" "17449443" "subst" "0.000122058" "01804" "ANO8_000006" "g.17449443G>A" "" "" "" "GTPBP3(NM_001128855.2):c.484G>A (p.(Ala162Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17338634G>A" "" "likely benign" "" "0000673617" "2" "90" "19" "17449016" "17449016" "subst" "0" "03695" "GTPBP3_000003" "g.17449016C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17338207C>T" "" "pathogenic" "" "0000673618" "2" "70" "19" "17449372" "17449372" "subst" "1.62678E-5" "03695" "GTPBP3_000004" "g.17449372C>T" "" "" "" "NM_001195422.1:c.479C>T (Ala160Val)" "" "Germline" "" "" "0" "" "" "g.17338563C>T" "" "likely pathogenic" "" "0000727196" "0" "70" "19" "17449399" "17449399" "subst" "8.13121E-6" "02329" "ANO8_000007" "g.17449399C>T" "" "" "" "GTPBP3(NM_133644.4):c.440C>T (p.A147V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000868804" "11" "70" "19" "17449372" "17449372" "subst" "1.62678E-5" "00006" "GTPBP3_000004" "g.17449372C>T" "" "{PMID:Yan 2021:34276756}" "" "" "ACMG PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.17338563C>T" "" "likely pathogenic (recessive)" "ACMG" "0000868805" "21" "90" "19" "17449468" "17449469" "del" "0" "00006" "GTPBP3_000005" "g.17449468_17449469del" "" "{PMID:Yan 2021:34276756}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.17338659_17338660del" "" "likely pathogenic (recessive)" "ACMG" "0000868806" "11" "70" "19" "17449503" "17449503" "subst" "0" "00006" "GTPBP3_000006" "g.17449503G>T" "" "{PMID:Yan 2021:34276756}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.17338694G>T" "" "likely pathogenic (recessive)" "ACMG" "0000868807" "21" "50" "19" "17449956" "17449956" "subst" "1.22664E-5" "00006" "GTPBP3_000007" "g.17449956A>C" "" "{PMID:Yan 2021:34276756}" "" "NM_133644.3:c.785A>C (p.Q262P)" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.17339147A>C" "" "VUS" "ACMG" "0000868808" "11" "50" "19" "17449956" "17449956" "subst" "1.22664E-5" "00006" "GTPBP3_000007" "g.17449956A>C" "" "{PMID:Yan 2021:34276756}" "" "NM_133644.3:c.785A>C (Q262P)" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.17339147A>C" "" "VUS" "ACMG" "0000868809" "21" "50" "19" "17449383" "17449383" "subst" "0" "00006" "GTPBP3_000008" "g.17449383G>A" "" "{PMID:Yan 2021:34276756}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.17338574G>A" "" "VUS" "ACMG" "0000868810" "1" "70" "19" "17452071" "17452071" "subst" "0" "00006" "GTPBP3_000009" "g.17452071G>A" "" "{PMID:Wang 2022:35413567}" "" "NM_133644.3:c.1289G>A (Cys430Tyr)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17341262G>A" "" "likely pathogenic (recessive)" "ACMG" "0000868811" "21" "70" "19" "17449504" "17449504" "subst" "0" "00006" "GTPBP3_000010" "g.17449504G>A" "" "{PMID:Wang 2022:35413567}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17338695G>A" "" "likely pathogenic (recessive)" "ACMG" "0000868882" "1" "90" "19" "17452324" "17452324" "dup" "0" "00006" "GTPBP3_000022" "g.17452324dup" "" "{PMID:Kopajtich 2014:25434004}" "" "1291dupC" "" "Germline" "" "" "0" "" "" "g.17341515dup" "" "pathogenic (recessive)" "" "0000868883" "1" "90" "19" "17452324" "17452324" "dup" "0" "00006" "GTPBP3_000022" "g.17452324dup" "" "{PMID:Kopajtich 2014:25434004}" "" "1291dupC" "" "Germline" "" "" "0" "" "" "g.17341515dup" "" "pathogenic (recessive)" "" "0000868884" "1" "90" "19" "17449435" "17449435" "subst" "0" "00006" "GTPBP3_000013" "g.17449435A>T" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17338626A>T" "" "pathogenic (recessive)" "" "0000868885" "1" "90" "19" "17449443" "17449443" "subst" "0" "00006" "GTPBP3_000014" "g.17449443G>C" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17338634G>C" "" "pathogenic (recessive)" "" "0000868886" "3" "90" "19" "17451887" "17451887" "subst" "0" "00006" "GTPBP3_000021" "g.17451887G>C" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17341078G>C" "" "pathogenic (recessive)" "" "0000868887" "3" "90" "19" "17449930" "17449930" "del" "0" "00006" "GTPBP3_000015" "g.17449930del" "" "{PMID:Kopajtich 2014:25434004}" "" "665-2delA [Ala222Gly; Asp223_Ser270del]" "" "Germline" "" "" "0" "" "" "g.17339121del" "" "pathogenic (recessive)" "" "0000868888" "3" "90" "19" "17449383" "17449383" "subst" "0" "00006" "GTPBP3_000008" "g.17449383G>A" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17338574G>A" "" "pathogenic (recessive)" "" "0000868889" "3" "90" "19" "17450037" "17450037" "subst" "0" "00006" "GTPBP3_000018" "g.17450037C>A" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17339228C>A" "" "pathogenic (recessive)" "" "0000868890" "1" "50" "19" "17448428" "17448428" "subst" "0" "00006" "GTPBP3_000011" "g.17448428G>T" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17337619G>T" "" "VUS" "" "0000868891" "3" "90" "19" "17448452" "17448453" "delins" "0" "00006" "GTPBP3_000012" "g.17448452_17448453delinsGTG" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17337643_17337644delinsGTG" "" "pathogenic (recessive)" "" "0000868892" "3" "90" "19" "17448452" "17448453" "delins" "0" "00006" "GTPBP3_000012" "g.17448452_17448453delinsGTG" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17337643_17337644delinsGTG" "" "pathogenic (recessive)" "" "0000868893" "1" "90" "19" "17450398" "17450398" "subst" "0.000113948" "00006" "GTPBP3_000020" "g.17450398G>C" "" "{PMID:Kopajtich 2014:25434004}" "" "964G>A [673G>A;964G>C]" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.17339589G>C" "" "pathogenic (recessive)" "" "0000868894" "2" "90" "19" "17452408" "17452408" "subst" "0" "00006" "GTPBP3_000023" "g.17452408G>A" "" "{PMID:Kopajtich 2014:25434004}" "" "1291dupC" "" "Germline" "" "" "0" "" "" "g.17341599G>A" "" "pathogenic (recessive)" "" "0000868895" "2" "90" "19" "17452408" "17452408" "subst" "0" "00006" "GTPBP3_000023" "g.17452408G>A" "" "{PMID:Kopajtich 2014:25434004}" "" "1291dupC" "" "Germline" "" "" "0" "" "" "g.17341599G>A" "" "pathogenic (recessive)" "" "0000868896" "2" "90" "19" "17450398" "17450398" "subst" "0.000113948" "00006" "GTPBP3_000020" "g.17450398G>C" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17339589G>C" "" "pathogenic (recessive)" "" "0000868897" "2" "50" "19" "17449940" "17449940" "subst" "1.63417E-5" "00006" "GTPBP3_000016" "g.17449940G>A" "" "{PMID:Kopajtich 2014:25434004}" "" "[673G>A;964G>C]" "" "Germline" "" "" "0" "" "" "g.17339131G>A" "" "VUS" "" "0000868898" "2" "90" "19" "17450368" "17450391" "del" "0" "00006" "GTPBP3_000019" "g.17450368_17450391del" "" "{PMID:Kopajtich 2014:25434004}" "" "" "" "Germline" "" "" "0" "" "" "g.17339559_17339582del" "" "pathogenic (recessive)" "" "0000868899" "2" "90" "19" "17450398" "17450398" "subst" "0.000113948" "00006" "GTPBP3_000020" "g.17450398G>C" "" "{PMID:Kopajtich 2014:25434004}" "" "[673G>A;964G>C]" "" "Germline" "" "" "0" "" "" "g.17339589G>C" "" "pathogenic (recessive)" "" "0000868900" "1" "50" "19" "17449940" "17449940" "subst" "1.63417E-5" "00006" "GTPBP3_000016" "g.17449940G>A" "" "{PMID:Kopajtich 2014:25434004}" "" "[673G>A;964G>C]" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.17339131G>A" "" "VUS" "" "0000868902" "0" "90" "19" "17448428" "17448428" "subst" "0" "00006" "GTPBP3_000011" "g.17448428G>T" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; blocked hGTPBP3 import into mitochondria, reduced stability, no yeast complementation, reduced hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17337619G>T" "" "NA" "" "0000868903" "0" "90" "19" "17449383" "17449383" "subst" "0" "00006" "GTPBP3_000008" "g.17449383G>A" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; reduced stability, no yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17338574G>A" "" "NA" "" "0000868904" "0" "90" "19" "17449435" "17449435" "subst" "0" "00006" "GTPBP3_000013" "g.17449435A>T" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; 0.22 GTPase activityreduced stability, no yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17338626A>T" "" "NA" "" "0000868905" "0" "90" "19" "17449443" "17449443" "subst" "0" "00006" "GTPBP3_000014" "g.17449443G>C" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; normal stability, 0.09 GTPase activityreduced stability, no yeast complementation, reduced hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17338634G>C" "" "NA" "" "0000868906" "1" "90" "19" "17449940" "17449940" ";" "0" "00006" "GTPBP3_000017" "g.[17449940G>A;17450398G>C]" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; normal stability, 0.13 GTPase activityreduced stability, no yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.[17339131G>A;17339589G>C]" "" "NA" "" "0000868907" "0" "90" "19" "17450037" "17450037" "subst" "0" "00006" "GTPBP3_000018" "g.17450037C>A" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; reduced stability, 0.03 GTPase activityreduced stability, no yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17339228C>A" "" "NA" "" "0000868908" "0" "90" "19" "17450368" "17450391" "del" "0" "00006" "GTPBP3_000019" "g.17450368_17450391del" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; normal stability, 0.06 GTPase activityreduced stability, no yeast complementation, reduced hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17339559_17339582del" "" "NA" "" "0000868909" "0" "90" "19" "17450398" "17450398" "subst" "0.000113948" "00006" "GTPBP3_000020" "g.17450398G>C" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; normal stability, 0.03 GTPase activityreduced stability, no yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17339589G>C" "" "NA" "" "0000868910" "0" "90" "19" "17451887" "17451887" "subst" "0" "00006" "GTPBP3_000021" "g.17451887G>C" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; reduced stability, yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17341078G>C" "" "NA" "" "0000868911" "0" "90" "19" "17452408" "17452408" "subst" "0" "00006" "GTPBP3_000023" "g.17452408G>A" "" "{PMID:Peng 2021:33619562}" "" "" "functional analysis by expression cloning HEK293 cells; normal stability, 0.90 GTPase activityreduced stability, no yeast complementation, normal hMTO1 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.17341599G>A" "" "NA" "" "0000915159" "0" "10" "19" "17448961" "17448961" "subst" "0.640356" "02325" "ANO8_000010" "g.17448961A>C" "" "" "" "GTPBP3(NM_133644.4):c.198A>C (p.T66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915160" "0" "10" "19" "17450016" "17450016" "subst" "0.653634" "02325" "ANO8_000011" "g.17450016T>C" "" "" "" "GTPBP3(NM_133644.4):c.845T>C (p.V282A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983300" "0" "30" "19" "17443840" "17443840" "subst" "0.0002723" "01804" "ANO8_000012" "g.17443840G>A" "" "" "" "ANO8(NM_020959.3):c.490-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983301" "0" "50" "19" "17449369" "17449369" "subst" "4.06683E-6" "01804" "ANO8_000013" "g.17449369C>G" "" "" "" "GTPBP3(NM_032620.4):c.410C>G (p.(Pro137Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042767" "0" "50" "19" "17449804" "17449818" "del" "0" "01804" "ANO8_000014" "g.17449804_17449818del" "" "" "" "GTPBP3(NM_032620.4):c.633_647del (p.(Asp211_Glu215del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049569" "3" "90" "19" "17450270" "17450270" "subst" "0.000106013" "00006" "GTPBP3_000024" "g.17450270C>T" "" "{PMID:Elmas 2019:30426380}" "" "NM_133644.3:c.932C>T (Pro311Leu)" "" "Germline" "" "" "0" "" "" "g.17339461C>T" "" "pathogenic (recessive)" "" "0001056567" "0" "50" "19" "17449933" "17449933" "subst" "4.08073E-6" "01804" "ANO8_000015" "g.17449933C>A" "" "" "" "GTPBP3(NM_032620.4):c.666C>A (p.(Ala222=))" "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 GTPBP3 ## Count = 54 "{{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}}" "0000255570" "00009050" "90" "1121" "0" "1121" "0" "c.1121del" "r.(?)" "p.(Asn374ThrfsTer26)" "" "0000288885" "00009050" "50" "551" "0" "551" "0" "c.551T>G" "r.(?)" "p.(Leu184Arg)" "" "0000566549" "00009050" "30" "-4590" "0" "-4590" "0" "c.-4590C>T" "r.(?)" "p.(=)" "" "0000566550" "00009050" "50" "-2588" "0" "-2588" "0" "c.-2588del" "r.(?)" "p.(=)" "" "0000617448" "00009050" "50" "54" "-3" "54" "-3" "c.54-3C>T" "r.spl?" "p.?" "" "0000617449" "00009050" "30" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000617450" "00009050" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Ala162Thr)" "" "0000673617" "00009050" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Pro85Ser)" "" "0000673618" "00009050" "70" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ala138Val)" "" "0000727196" "00009050" "70" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ala147Val)" "" "0000868804" "00009050" "70" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ala138Val)" "" "0000868805" "00009050" "90" "509" "0" "510" "0" "c.509_510del" "r.(?)" "p.(Glu170Glyfs*42)" "" "0000868806" "00009050" "70" "544" "0" "544" "0" "c.544G>T" "r.(?)" "p.(Gly182*)" "" "0000868807" "00009050" "50" "689" "0" "689" "0" "c.689A>C" "r.(?)" "p.(Gln230Pro)" "" "0000868808" "00009050" "50" "689" "0" "689" "0" "c.689A>C" "r.(?)" "p.(Gln230Pro)" "" "0000868809" "00009050" "50" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Glu142Lys)" "" "0000868810" "00009050" "70" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Cys398Tyr)" "" "0000868811" "00009050" "70" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Gly182Glu)" "" "0000868882" "00009050" "90" "1291" "0" "1291" "0" "c.1291dup" "r.(?)" "p.(Arg431ProfsTer87)" "" "0000868883" "00009050" "90" "1291" "0" "1291" "0" "c.1291dup" "r.(?)" "p.(Arg431ProfsTer87)" "" "0000868884" "00009050" "90" "476" "0" "476" "0" "c.476A>T" "r.(?)" "p.(Glu159Val)" "" "0000868885" "00009050" "90" "484" "0" "484" "0" "c.484G>C" "r.(?)" "p.(Ala162Pro)" "" "0000868886" "00009050" "90" "1009" "0" "1009" "0" "c.1009G>C" "r.(?)" "p.(Asp337His)" "" "0000868887" "00009050" "90" "665" "-2" "665" "-2" "c.665-2del" "r.665_808del" "p.Ala222_Ser270delinsGly" "" "0000868888" "00009050" "90" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Glu142Lys)" "" "0000868889" "00009050" "90" "770" "0" "770" "0" "c.770C>A" "r.(?)" "p.(Pro257His)" "" "0000868890" "00009050" "50" "8" "0" "8" "0" "c.8G>T" "r.(?)" "p.(Arg3Leu)" "" "0000868891" "00009050" "90" "32" "0" "33" "0" "c.32_33delinsGTG" "r.(?)" "p.(Gln11ArgfsTer98)" "" "0000868892" "00009050" "90" "32" "0" "33" "0" "c.32_33delinsGTG" "r.(?)" "p.(Gln11ArgfsTer98)" "" "0000868893" "00009050" "90" "964" "0" "964" "0" "c.964G>C" "r.(?)" "p.(Ala322Pro)" "" "0000868894" "00009050" "90" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Glu459Lys)" "" "0000868895" "00009050" "90" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Glu459Lys)" "" "0000868896" "00009050" "90" "964" "0" "964" "0" "c.964G>C" "r.(?)" "p.(Ala322Pro)" "" "0000868897" "00009050" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Glu225Lys)" "" "0000868898" "00009050" "90" "934" "0" "957" "0" "c.934_957del" "r.(?)" "p.(Gly312_Val319del)" "" "0000868899" "00009050" "90" "964" "0" "964" "0" "c.964G>C" "r.(?)" "p.(Ala322Pro)" "" "0000868900" "00009050" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Glu225Lys)" "" "0000868902" "00009050" "90" "8" "0" "8" "0" "c.8G>T" "-" "p.Arg3Leu" "" "0000868903" "00009050" "90" "424" "0" "424" "0" "c.424G>A" "-" "p.Glu142Lys" "" "0000868904" "00009050" "90" "476" "0" "476" "0" "c.476A>T" "-" "p.Glu159Val" "" "0000868905" "00009050" "90" "484" "0" "484" "0" "c.484G>C" "-" "p.Ala162Pro" "" "0000868906" "00009050" "90" "673" "0" "673" "0" "c.[673G>A;964G>C]" "-" "p.[Glu225Lys;Ala322Pro]" "" "0000868907" "00009050" "90" "770" "0" "770" "0" "c.770C>A" "-" "p.Pro257His" "" "0000868908" "00009050" "90" "934" "0" "957" "0" "c.934_957del" "-" "p.Gly312_Val319del" "" "0000868909" "00009050" "90" "964" "0" "964" "0" "c.964G>C" "-" "p.Ala322Pro" "" "0000868910" "00009050" "90" "1009" "0" "1009" "0" "c.1009G>C" "-" "p.Asp337His" "" "0000868911" "00009050" "90" "1375" "0" "1375" "0" "c.1375G>A" "-" "p.Glu459Lys" "" "0000915159" "00009050" "10" "198" "0" "198" "0" "c.198A>C" "r.(?)" "p.(Thr66=)" "" "0000915160" "00009050" "10" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Val250Ala)" "" "0000983300" "00009050" "30" "-4581" "0" "-4581" "0" "c.-4581G>A" "r.(?)" "p.(=)" "" "0000983301" "00009050" "50" "410" "0" "410" "0" "c.410C>G" "r.(?)" "p.(Pro137Arg)" "" "0001042767" "00009050" "50" "633" "0" "647" "0" "c.633_647del" "r.(?)" "p.(Asp211_Glu215del)" "" "0001049569" "00009050" "90" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Pro279Leu)" "" "0001056567" "00009050" "50" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000307072" "0000673617" "0000307072" "0000673618" "0000411621" "0000868804" "0000411621" "0000868805" "0000411622" "0000868806" "0000411622" "0000868807" "0000411623" "0000868808" "0000411623" "0000868809" "0000411624" "0000868810" "0000411624" "0000868811" "0000411681" "0000868882" "0000411681" "0000868894" "0000411682" "0000868883" "0000411682" "0000868895" "0000411683" "0000868884" "0000411683" "0000868896" "0000411684" "0000868885" "0000411684" "0000868897" "0000411684" "0000868899" "0000411685" "0000868886" "0000411686" "0000868887" "0000411687" "0000868888" "0000411688" "0000868889" "0000411689" "0000868890" "0000411689" "0000868898" "0000411690" "0000868891" "0000411691" "0000868892" "0000411692" "0000868893" "0000411692" "0000868900" "0000469305" "0001049569"