### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF5) # 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}}" "NDUFAF5" "NADH:ubiquinone oxidoreductase complex assembly factor 5" "20" "p12.1" "unknown" "NG_015811.1" "UD_145629877462" "" "https://www.LOVD.nl/NDUFAF5" "" "1" "15899" "79133" "612360" "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/NDUFAF5_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2018-08-10 09:02:43" "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}}" "00025306" "NDUFAF5" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 5, transcript variant 1" "003" "NM_024120.4" "" "NP_077025.2" "" "" "" "-43" "2249" "1038" "13765672" "13799067" "00006" "2018-08-10 09:04:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06517" "MC1DN16" "Mi complex I deficiency, nuclear type 16" "AR" "618238" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFAF5" "00611" "NDUFAF5" "06517" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00174853" "" "" "" "1" "" "01598" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "" "United States" "" "0" "" "" "Taiwan" "Pat1" "00174854" "" "" "" "1" "" "01598" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00174855" "" "" "" "1" "" "01598" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "" "United States" "" "0" "" "" "Taiwan" "Pat2" "00305912" "" "" "" "1" "" "00006" "{PMID:Marcogliese 2018:30057031}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat4" "00306170" "" "" "" "1" "" "01598" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "Pat4" "00394356" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AgS1" "00436502" "" "" "" "3" "" "00006" "{PMID:Hershkovitsz 2021:33457206}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Israel" "00y00m43d" "0" "" "" "Arab;Christian" "FamPatII2" "00436503" "" "" "00436502" "1" "" "00006" "{PMID:Hershkovitsz 2021:33457206}" "sister" "F" "yes" "Israel" "7m" "0" "" "" "Arab;Christian" "FamPatII4" "00436504" "" "" "00436502" "1" "" "00006" "{PMID:Hershkovitsz 2021:33457206}" "brother" "M" "yes" "Israel" "" "0" "" "" "Arab;Christian" "FamPatII5" "00461179" "" "" "" "2" "" "00006" "{PMID:Zheng 2024:39423307}" "family, 2 affected" "M" "" "China" "" "0" "" "" "" "F037P040II-2" "00461180" "" "" "00461179" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "relative" "M" "" "China" "" "0" "" "" "" "F037P039II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00174853" "00038" "00174854" "00038" "00174855" "00038" "00305912" "01424" "00305912" "05611" "00306170" "00038" "00394356" "04214" "00436502" "05316" "00436503" "05316" "00436504" "05316" "00461179" "04293" "00461180" "04293" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00611, 01424, 04214, 04293, 05316, 05611, 06517 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "0000139677" "00038" "00174853" "01598" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000139678" "00038" "00174854" "01598" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000139679" "00038" "00174855" "01598" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "atypical Leigh syndrome" "" "0000231759" "05611" "00305912" "00006" "Unknown" "16y" "no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "NDD;VMD2" "" "" "0000232014" "00038" "00306170" "01598" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000287560" "04214" "00394356" "00000" "Familial, autosomal dominant" "" "Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "" "0000326680" "05316" "00436502" "00006" "Familial, autosomal recessive" "00y00m43d" "see paper; ..., 43d-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; hypertrophic cardiomyopathy; adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (lactate, 3-hydroxyisovaleric, ketones, 3-methyllgutaconic, 3-methyllgutaric acids); amino aciduria" "00y00m40d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COXPD52" "mitochondrial disorder" "" "0000326681" "05316" "00436503" "00006" "Familial, autosomal recessive" "00y07m" "see paper; ..., 7m-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (ethylmalonic, krebs cycle metabolites); amino aciduria" "00y07m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COXPD52" "mitochondrial disorder" "" "0000326682" "05316" "00436504" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., lethargy, hypotonia; no respiratory failure; no cerebral infraction; no seizures; no cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; no disseminated intravascular coagulation; no hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Glycine; elevated urine organic acids (lactate, ethylmalonic, ketones, 3-methyllgutaconic)" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COXPD52" "mitochondrial disorder" "" "0000348679" "04293" "00461179" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., acute onset; best corrected visual acuity (first visit) OD 0.03/OS 0.04; fundus oculi (first visit) OD optic disc edema/OS optic disc edema; OCT OD thickening/OS thickening;" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "0000348680" "04293" "00461180" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., acute onset; best corrected visual acuity (first visit) OD 0.01/OS light perception; fundus oculi (first visit) OD optic disc edema/OS optic disc edema; OCT OD thickening/OS thickening; electrophysiology normal (rod/cone);" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000175744" "00174853" "1" "01598" "01598" "2018-08-13 11:41:37" "" "" "SEQ" "DNA" "" "" "0000175745" "00174854" "1" "01598" "01598" "2018-08-13 11:41:37" "00006" "2020-07-09 18:32:55" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000175746" "00174855" "1" "01598" "01598" "2018-08-13 11:41:37" "" "" "SEQ" "DNA" "" "" "0000307042" "00305912" "1" "00006" "00006" "2020-07-05 16:07:27" "00006" "2020-07-06 09:46:49" "SEQ;SEQ-NG" "DNA" "" "" "0000307303" "00306170" "1" "00006" "00006" "2020-07-09 18:45:01" "" "" "SEQ" "DNA" "" "" "0000395603" "00394356" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000437985" "00436502" "1" "00006" "00006" "2023-09-19 16:20:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000437986" "00436503" "1" "00006" "00006" "2023-09-19 16:27:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000437987" "00436504" "1" "00006" "00006" "2023-09-19 16:31:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000462811" "00461179" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462812" "00461180" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000175744" "NDUFAF5" "0000175745" "NDUFAF5" "0000175746" "NDUFAF5" "0000307042" "BEST1" "0000307042" "IRF2BPL" "0000307303" "NDUFAF5" "0000395603" "JAG1" ## 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 = 37 "{{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}}" "0000249578" "0" "30" "20" "13773889" "13773889" "subst" "0.000650851" "02325" "NDUFAF5_000003" "g.13773889A>G" "" "" "" "NDUFAF5(NM_024120.5):c.375+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13793243A>G" "" "likely benign" "" "0000296365" "0" "30" "20" "13765930" "13765930" "subst" "0.000586551" "02325" "NDUFAF5_000001" "g.13765930G>A" "" "" "" "NDUFAF5(NM_024120.4):c.216G>A (p.K72=), NDUFAF5(NM_024120.5):c.216G>A (p.K72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13785284G>A" "" "likely benign" "" "0000296366" "0" "10" "20" "13765944" "13765951" "del" "0" "02325" "NDUFAF5_000002" "g.13765944_13765951del" "" "" "" "NDUFAF5(NM_024120.5):c.222+8_222+15delCGCGGGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13785298_13785305del" "" "benign" "" "0000296367" "0" "90" "20" "13789545" "13789545" "subst" "2.44033E-5" "02325" "NDUFAF5_000004" "g.13789545C>T" "" "" "" "NDUFAF5(NM_024120.5):c.775C>T (p.Q259*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13808899C>T" "" "pathogenic" "" "0000398597" "21" "90" "20" "13765869" "13765869" "subst" "4.50222E-5" "01598" "NDUFAF5_000005" "g.13765869A>C" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "compound heterozygous with c.836T>G" "Germline" "yes" "" "0" "" "" "g.13785223A>C" "" "pathogenic (recessive)" "" "0000398598" "11" "90" "20" "13797166" "13797166" "subst" "5.68907E-5" "01598" "NDUFAF5_000006" "g.13797166T>G" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "compound heterozygous with c.155A>C" "Germline" "yes" "rs761389904" "0" "" "" "g.13816520T>G" "{CV:225036}" "pathogenic (recessive)" "" "0000398599" "3" "90" "20" "13797166" "13797166" "subst" "5.68907E-5" "01598" "NDUFAF5_000006" "g.13797166T>G" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "found homozygous in atypical Leigh Syndrome patient" "Germline" "yes" "rs761389904" "0" "" "" "g.13816520T>G" "{CV:225036}" "pathogenic (recessive)" "" "0000398600" "21" "90" "20" "13769298" "13769298" "subst" "0.000447169" "01598" "NDUFAF5_000007" "g.13769298G>C" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "compound heterozygous with c.223-907A>C and c.222+8_222+9insGCGGGGCGGCGGGGCG; last nucleotide of exon, affects splicing confirmed" "Germline" "yes" "rs150613320" "0" "" "" "g.13788652G>C" "{CV:265061}" "pathogenic (recessive)" "" "0000398601" "0" "50" "20" "13765954" "13765969" "dup" "0" "01598" "NDUFAF5_000009" "g.13765954_13765969dup" "" "Simon, unpublished" "" "222+8_222+9insGCGGGGCGGCGGGGCG" "" "De novo" "" "" "0" "" "" "g.13785308_13785323dup" "" "VUS" "" "0000398602" "11" "70" "20" "13767051" "13767051" "subst" "0" "01598" "NDUFAF5_000008" "g.13767051A>C" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "compound heterozygous with c.327G>C and de novo c.222+8_222+9insGCGGGGCGGCGGGGCG20.4" "Germline" "" "" "0" "" "" "g.13786405A>C" "" "likely pathogenic (recessive)" "" "0000569116" "0" "30" "20" "13765930" "13765930" "subst" "0.000586551" "01943" "NDUFAF5_000001" "g.13765930G>A" "" "" "" "NDUFAF5(NM_024120.4):c.216G>A (p.K72=), NDUFAF5(NM_024120.5):c.216G>A (p.K72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13785284G>A" "" "likely benign" "" "0000569117" "0" "50" "20" "13782131" "13782131" "subst" "0" "01943" "NDUFAF5_000011" "g.13782131G>C" "" "" "" "NDUFAF5(NM_024120.4):c.520-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13801485G>C" "" "VUS" "" "0000569118" "0" "50" "20" "13782223" "13782223" "subst" "1.62545E-5" "02325" "NDUFAF5_000012" "g.13782223C>T" "" "" "" "NDUFAF5(NM_001352407.1):c.50C>T (p.A17V), NDUFAF5(NM_001352407.2):c.50C>T (p.A17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13801577C>T" "" "VUS" "" "0000569119" "0" "50" "20" "13789522" "13789522" "subst" "0.000288745" "02327" "NDUFAF5_000013" "g.13789522T>C" "" "" "" "NDUFAF5(NM_001352407.1):c.191T>C (p.M64T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13808876T>C" "" "VUS" "" "0000617992" "0" "50" "20" "13765934" "13765934" "subst" "0" "02325" "ESF1_000001" "g.13765934G>A" "" "" "" "NDUFAF5(NM_024120.5):c.220G>A (p.E74K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13785288G>A" "" "VUS" "" "0000624122" "0" "50" "20" "13789522" "13789522" "subst" "0.000288745" "01943" "NDUFAF5_000013" "g.13789522T>C" "" "" "" "NDUFAF5(NM_001352407.1):c.191T>C (p.M64T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13808876T>C" "" "VUS" "" "0000673645" "0" "50" "20" "13782253" "13782253" "subst" "6.49942E-5" "00006" "NDUFAF5_000014" "g.13782253C>T" "" "{PMID:Marcogliese 2018:30057031}" "" "" "" "Germline" "" "" "0" "" "" "g.13801607C>T" "" "VUS" "" "0000673904" "21" "90" "20" "13769298" "13769298" "subst" "0.000447169" "01598" "NDUFAF5_000007" "g.13769298G>C" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "affects splicing, last nucleotide of exon; found compound heterozygous with p.Gly250Val \r\nin patient with Leigh Syndrome" "Germline" "yes" "rs150613320" "0" "" "" "g.13788652G>C" "{CV:265061}" "pathogenic (recessive)" "" "0000673905" "11" "90" "20" "13789519" "13789519" "subst" "4.06762E-5" "01598" "NDUFAF5_000010" "g.13789519G>T" "" "{PMID:Simon 2019:30473481}, {DOI:Simon 2019:10.1016/j.ymgme.2018.11.001}" "" "" "found compound heterozygous with p.Lys109Asn" "Germline" "" "rs757043077" "0" "" "" "g.13808873G>T" "{CV:372253}" "pathogenic (recessive)" "" "0000681560" "0" "50" "20" "13775530" "13775530" "subst" "0" "02325" "NDUFAF5_000015" "g.13775530A>G" "" "" "" "NDUFAF5(NM_024120.5):c.422A>G (p.D141G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681561" "0" "50" "20" "13782223" "13782223" "subst" "1.62545E-5" "01943" "NDUFAF5_000012" "g.13782223C>T" "" "" "" "NDUFAF5(NM_001352407.1):c.50C>T (p.A17V), NDUFAF5(NM_001352407.2):c.50C>T (p.A17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692937" "0" "70" "20" "13797156" "13797156" "subst" "3.65729E-5" "01943" "NDUFAF5_000016" "g.13797156C>T" "" "" "" "NDUFAF5(NM_001352407.1):c.265C>T (p.R89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727607" "0" "50" "20" "13769298" "13769298" "subst" "0.000447169" "01943" "NDUFAF5_000007" "g.13769298G>C" "" "" "" "NDUFAF5(NM_024120.4):c.327G>C (p.K109N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727608" "0" "30" "20" "13775520" "13775520" "subst" "0.000280463" "01943" "NDUFAF5_000017" "g.13775520G>A" "" "" "" "NDUFAF5(NM_024120.4):c.412G>A (p.V138I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809169" "0" "50" "20" "13763150" "13763150" "subst" "0" "01943" "ESF1_000002" "g.13763150C>A" "" "" "" "ESF1(NM_016649.3):c.637G>T (p.V213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000826991" "0" "90" "20" "9200001" "17900000" "del" "0" "00000" "JAG1_000783" "g.9200001_17900000del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "JAG1 del20p12.1-p12.2," "heterozygous" "Unknown" "?" "" "0" "" "" "g.9200001_17900000del" "" "pathogenic" "" "0000866383" "0" "50" "20" "13773854" "13773854" "subst" "3.24995E-5" "01943" "NDUFAF5_000018" "g.13773854A>G" "" "" "" "NDUFAF5(NM_024120.4):c.356A>G (p.D119G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895230" "0" "30" "20" "13765954" "13765969" "dup" "0" "02330" "NDUFAF5_000009" "g.13765954_13765969dup" "" "" "" "NDUFAF5(NM_001352407.2):c.-474+10_-474+25dupCGGGGCGGCGGGGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933488" "3" "30" "20" "13797842" "13797842" "subst" "8.13266E-6" "00006" "NDUFAF5_000019" "g.13797842A>G" "" "{PMID:Hershkovitsz 2021:33457206}" "" "" "" "Germline" "" "" "0" "" "" "g.13817196A>G" "" "benign" "" "0000933489" "3" "30" "20" "13797842" "13797842" "subst" "8.13266E-6" "00006" "NDUFAF5_000019" "g.13797842A>G" "" "{PMID:Hershkovitsz 2021:33457206}" "" "" "" "Germline" "" "" "0" "" "" "g.13817196A>G" "" "benign" "" "0000933490" "1" "30" "20" "13797842" "13797842" "subst" "8.13266E-6" "00006" "NDUFAF5_000019" "g.13797842A>G" "" "{PMID:Hershkovitsz 2021:33457206}" "" "" "" "Germline" "" "" "0" "" "" "g.13817196A>G" "" "benign" "" "0000983738" "0" "50" "20" "13765946" "13765947" "ins" "0" "01804" "ESF1_000003" "g.13765946_13765947insCGGGCGGC" "" "" "" "NDUFAF5(NM_024120.5):c.222+10_222+11insCGGGCGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022398" "1" "90" "20" "13797166" "13797166" "subst" "5.68907E-5" "00006" "NDUFAF5_000006" "g.13797166T>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.13816520T>G" "" "pathogenic" "" "0001022399" "1" "90" "20" "13797166" "13797166" "subst" "5.68907E-5" "00006" "NDUFAF5_000006" "g.13797166T>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.13816520T>G" "" "pathogenic" "" "0001022554" "2" "90" "20" "13797166" "13797166" "subst" "5.68907E-5" "00006" "NDUFAF5_000006" "g.13797166T>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.13816520T>G" "" "pathogenic" "" "0001022555" "2" "90" "20" "13797166" "13797166" "subst" "5.68907E-5" "00006" "NDUFAF5_000006" "g.13797166T>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.13816520T>G" "" "pathogenic" "" "0001043263" "0" "50" "20" "13775544" "13775544" "subst" "8.12632E-6" "01804" "NDUFAF5_000020" "g.13775544C>T" "" "" "" "NDUFAF5(NM_024120.5):c.436C>T (p.(Pro146Ser))" "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 NDUFAF5 ## Count = 37 "{{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}}" "0000249578" "00025306" "30" "375" "16" "375" "16" "c.375+16A>G" "r.(=)" "p.(=)" "" "0000296365" "00025306" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Lys72=)" "" "0000296366" "00025306" "10" "222" "8" "222" "15" "c.222+8_222+15del" "r.(=)" "p.(=)" "" "0000296367" "00025306" "90" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Gln259Ter)" "" "0000398597" "00025306" "90" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Lys52Thr)" "1" "0000398598" "00025306" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Met279Arg)" "9" "0000398599" "00025306" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Met279Arg)" "9" "0000398600" "00025306" "90" "327" "0" "327" "0" "c.327G>C" "r.264_327del" "p.Asn89Lysfs*16" "3" "0000398601" "00025306" "50" "222" "18" "222" "33" "c.222+18_222+33dup" "r.(?)" "p.(?)" "1i" "0000398602" "00025306" "70" "223" "-907" "223" "-907" "c.223-907A>C" "r.222_223ins[223-961_223-908;c;223-906_223-704]" "p.Glu74_Val75insAWCTYYTADVVYLEDVRSSPFPSKESTWTTT*" "1i" "0000569116" "00025306" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Lys72=)" "" "0000569117" "00025306" "50" "520" "-1" "520" "-1" "c.520-1G>C" "r.spl?" "p.?" "" "0000569118" "00025306" "50" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Ala204Val)" "" "0000569119" "00025306" "50" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Met251Thr)" "" "0000617992" "00025306" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Glu74Lys)" "" "0000624122" "00025306" "50" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Met251Thr)" "" "0000673645" "00025306" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Pro214Leu)" "" "0000673904" "00025306" "90" "327" "0" "327" "0" "c.327G>C" "r.spl" "p.(Lys109Asn)" "" "0000673905" "00025306" "90" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Gly250Val)" "" "0000681560" "00025306" "50" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Asp141Gly)" "" "0000681561" "00025306" "50" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Ala204Val)" "" "0000692937" "00025306" "70" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Ter)" "" "0000727607" "00025306" "50" "327" "0" "327" "0" "c.327G>C" "r.(?)" "p.(Lys109Asn)" "" "0000727608" "00025306" "30" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Val138Ile)" "" "0000809169" "00025306" "50" "-2565" "0" "-2565" "0" "c.-2565C>A" "r.(?)" "p.(=)" "" "0000826991" "00025306" "90" "-4565714" "0" "4103182" "0" "c.-4565714_*4102144del" "r.0?" "p.0?" "" "0000866383" "00025306" "50" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asp119Gly)" "" "0000895230" "00025306" "30" "222" "18" "222" "33" "c.222+18_222+33dup" "r.(=)" "p.(=)" "" "0000933488" "00025306" "30" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Lys342Glu)" "" "0000933489" "00025306" "30" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Lys342Glu)" "" "0000933490" "00025306" "30" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Lys342Glu)" "" "0000983738" "00025306" "50" "222" "10" "222" "11" "c.222+10_222+11insCGGGCGGC" "r.(=)" "p.(=)" "" "0001022398" "00025306" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Met279Arg)" "" "0001022399" "00025306" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Met279Arg)" "" "0001022554" "00025306" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Met279Arg)" "" "0001022555" "00025306" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Met279Arg)" "" "0001043263" "00025306" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Pro146Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000175744" "0000398597" "0000175744" "0000398598" "0000175745" "0000398600" "0000175745" "0000398601" "0000175745" "0000398602" "0000175746" "0000398599" "0000307042" "0000673645" "0000307303" "0000673904" "0000307303" "0000673905" "0000395603" "0000826991" "0000437985" "0000933489" "0000437986" "0000933490" "0000437987" "0000933488" "0000462811" "0001022398" "0000462811" "0001022554" "0000462812" "0001022399" "0000462812" "0001022555"