### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS1) # 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}}" "NDUFS1" "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)" "2" "q33-q34" "unknown" "NG_009248.1" "UD_132085400071" "" "https://www.LOVD.nl/NDUFS1" "" "1" "7707" "4719" "157655" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NDUFS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-04 17:14:57" "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}}" "00014432" "NDUFS1" "transcript variant 1" "004" "NM_005006.6" "" "NP_004997.4" "" "" "" "-183" "3290" "2184" "207024243" "206987803" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02953" "COXPD3" "combined oxidative phosphorylation deficiency, type 3 (COXPD-3)" "AR" "610505" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "06477" "MC1DN5" "Mi complex I deficiency, nuclear type 5" "AR" "618226" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NDUFS1" "00139" "NDUFS1" "00611" "NDUFS1" "06477" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00063251" "" "" "" "1" "" "01470" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00292548" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292549" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00402893" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "3-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam6PatIV1" "00461181" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F038P041II-1" "00461182" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F039P042II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00063251" "02953" "00292548" "00198" "00292549" "00198" "00402893" "04225" "00461181" "04293" "00461182" "04293" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00611, 02953, 04225, 04293, 06477 ## Count = 4 "{{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/Tumor/MSI}}" "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000050848" "02953" "00063251" "01470" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295644" "04225" "00402893" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000348681" "04293" "00461181" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.04/OS 1; fundus oculi (first visit) OD temporal pallor/OS normal; OCT OD temporal thinning/OS normal; optic atrophy;" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348682" "04293" "00461182" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., acute onset; best corrected visual acuity (first visit) OD 0.025/OS 0.05; fundus oculi (first visit) OD optic disc edema/OS optic disc edema; OCT OD thickening/OS thickening; optic nerve edema" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072359" "00063251" "1" "01470" "01470" "2016-05-31 13:41:27" "" "" "SEQ-NG" "DNA" "Blood" "" "0000293716" "00292548" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293717" "00292549" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000404134" "00402893" "1" "02404" "02404" "2022-02-13 17:40:19" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000462813" "00461181" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462814" "00461182" "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 = 1 "{{screeningid}}" "{{geneid}}" "0000072359" "NDUFS1" ## 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 = 66 "{{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}}" "0000115918" "0" "70" "2" "207012512" "207012512" "subst" "0" "01470" "NDUFS1_000001" "g.207012512G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.206147788G>A" "" "likely pathogenic" "" "0000248990" "0" "10" "2" "207014682" "207014682" "del" "0" "02325" "NDUFS1_000013" "g.207014682del" "" "" "" "NDUFS1(NM_001199983.2):c.-18-9delT, NDUFS1(NM_005006.6):c.154-9delT, NDUFS1(NM_005006.7):c.154-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206149958del" "" "benign" "" "0000248991" "0" "10" "2" "207014666" "207014666" "subst" "0" "02325" "NDUFS1_000017" "g.207014666A>G" "" "" "" "NDUFS1(NM_005006.7):c.154-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206149942A>G" "" "benign" "" "0000249458" "0" "30" "2" "206997717" "206997717" "subst" "0.000199156" "02325" "NDUFS1_000006" "g.206997717A>C" "" "" "" "NDUFS1(NM_005006.7):c.1505T>G (p.(Met502Arg), p.M502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206132993A>C" "" "likely benign" "" "0000249523" "0" "30" "2" "207014664" "207014664" "subst" "0" "02325" "NDUFS1_000014" "g.207014664A>G" "" "" "" "NDUFS1(NM_005006.7):c.154-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206149940A>G" "" "likely benign" "" "0000267767" "0" "10" "2" "207025444" "207025444" "subst" "0.456461" "02325" "EEF1B2_000001" "g.207025444T>C" "" "" "" "EEF1B2(NM_001959.4):c.203+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206160720T>C" "" "benign" "" "0000296374" "0" "10" "2" "207006676" "207006676" "subst" "0.306846" "02325" "NDUFS1_000008" "g.207006676T>C" "" "" "" "NDUFS1(NM_005006.7):c.1251A>G (p.R417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206141952T>C" "" "benign" "" "0000296375" "0" "30" "2" "207003310" "207003310" "subst" "0.00329321" "02325" "NDUFS1_000007" "g.207003310G>C" "" "" "" "NDUFS1(NM_005006.7):c.1291C>G (p.L431V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206138586G>C" "" "likely benign" "" "0000296376" "0" "30" "2" "206994920" "206994920" "subst" "0.000442697" "02325" "NDUFS1_000004" "g.206994920C>T" "" "" "" "NDUFS1(NM_005006.7):c.1600G>A (p.V534M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206130196C>T" "" "likely benign" "" "0000296378" "0" "30" "2" "206991416" "206991416" "subst" "0.00575282" "02325" "NDUFS1_000002" "g.206991416T>A" "" "" "" "NDUFS1(NM_005006.7):c.2019+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206126692T>A" "" "likely benign" "" "0000296379" "0" "10" "2" "207008763" "207008763" "subst" "0.454747" "02325" "NDUFS1_000009" "g.207008763C>A" "" "" "" "NDUFS1(NM_005006.7):c.966G>T (p.A322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206144039C>A" "" "benign" "" "0000299941" "0" "30" "2" "207003310" "207003310" "subst" "0.00329321" "02326" "NDUFS1_000007" "g.207003310G>C" "" "" "" "NDUFS1(NM_005006.7):c.1291C>G (p.L431V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206138586G>C" "" "likely benign" "" "0000302960" "0" "10" "2" "207014681" "207014682" "del" "0" "01943" "NDUFS1_000012" "g.207014681_207014682del" "" "" "" "NDUFS1(NM_005006.6):c.154-10_154-9delTT, NDUFS1(NM_005006.7):c.154-10_154-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206149957_206149958del" "" "benign" "" "0000302961" "0" "30" "2" "207014656" "207014657" "del" "0" "01943" "NDUFS1_000011" "g.207014656_207014657del" "" "" "" "NDUFS1(NM_005006.6):c.154-8_154-7delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206149932_206149933del" "" "likely benign" "" "0000328054" "0" "30" "2" "206997670" "206997670" "subst" "0" "01804" "NDUFS1_000005" "g.206997670T>C" "" "" "" "NDUFS1(NM_001199981.1):c.1444A>G (p.(Arg482Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206132946T>C" "" "likely benign" "" "0000328055" "0" "50" "2" "207012564" "207012564" "subst" "5.27953E-5" "01804" "NDUFS1_000010" "g.207012564T>G" "" "" "" "NDUFS1(NM_001199981.1):c.231-6A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206147840T>G" "" "VUS" "" "0000337459" "0" "90" "2" "207011624" "207011624" "subst" "4.07007E-6" "02327" "NDUFS1_000015" "g.207011624T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206146900T>C" "" "pathogenic" "" "0000350408" "0" "50" "2" "207011681" "207011681" "subst" "8.53575E-5" "02327" "NDUFS1_000016" "g.207011681A>G" "" "" "" "NDUFS1(NM_005006.7):c.683T>C (p.(Val228Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206146957A>G" "" "VUS" "" "0000513985" "0" "50" "2" "206992669" "206992669" "subst" "0" "01804" "NDUFS1_000019" "g.206992669A>T" "" "" "" "NDUFS1(NM_001199981.1):c.1628T>A (p.(Ile543Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206127945A>T" "" "VUS" "" "0000513986" "0" "50" "2" "206994810" "206994810" "dup" "0" "02325" "NDUFS1_000020" "g.206994810dup" "" "" "" "NDUFS1(NM_005006.7):c.1708+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206130086dup" "" "VUS" "" "0000513987" "0" "50" "2" "206994896" "206994896" "subst" "8.12249E-6" "02327" "NDUFS1_000021" "g.206994896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206130172G>A" "" "VUS" "" "0000513988" "0" "30" "2" "207003230" "207003230" "subst" "0.0112447" "02326" "NDUFS1_000022" "g.207003230C>T" "" "" "" "NDUFS1(NM_005006.7):c.1371G>A (p.(Ser457=), p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206138506C>T" "" "likely benign" "" "0000513989" "0" "30" "2" "207003310" "207003310" "subst" "0.00329321" "02330" "NDUFS1_000007" "g.207003310G>C" "" "" "" "NDUFS1(NM_005006.7):c.1291C>G (p.L431V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206138586G>C" "" "likely benign" "" "0000513990" "0" "50" "2" "207003316" "207003316" "subst" "4.06068E-5" "02330" "NDUFS1_000023" "g.207003316C>T" "" "" "" "NDUFS1(NM_005006.7):c.1285G>A (p.V429M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206138592C>T" "" "VUS" "" "0000513991" "0" "10" "2" "207007481" "207007481" "subst" "0.000828494" "02330" "NDUFS1_000024" "g.207007481G>A" "" "" "" "NDUFS1(NM_005006.7):c.1062C>T (p.L354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206142757G>A" "" "benign" "" "0000513992" "0" "30" "2" "207011753" "207011753" "subst" "0.000577489" "02325" "NDUFS1_000025" "g.207011753A>G" "" "" "" "NDUFS1(NM_005006.7):c.611T>C (p.M204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206147029A>G" "" "likely benign" "" "0000513994" "0" "10" "2" "207012580" "207012581" "del" "0" "02330" "NDUFS1_000027" "g.207012580_207012581del" "" "" "" "NDUFS1(NM_005006.7):c.339-20_339-19delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206147856_206147857del" "" "benign" "" "0000513995" "0" "10" "2" "207014677" "207014682" "del" "0" "02330" "NDUFS1_000028" "g.207014677_207014682del" "" "" "" "NDUFS1(NM_005006.7):c.154-14_154-9delTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149953_206149958del" "" "benign" "" "0000513996" "0" "10" "2" "207014678" "207014682" "del" "0" "02330" "NDUFS1_000029" "g.207014678_207014682del" "" "" "" "NDUFS1(NM_005006.6):c.154-13_154-9delTTTTT, NDUFS1(NM_005006.7):c.154-13_154-9delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149954_206149958del" "" "benign" "" "0000513997" "0" "10" "2" "207014678" "207014682" "del" "0" "01943" "NDUFS1_000029" "g.207014678_207014682del" "" "" "" "NDUFS1(NM_005006.6):c.154-13_154-9delTTTTT, NDUFS1(NM_005006.7):c.154-13_154-9delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149954_206149958del" "" "benign" "" "0000513998" "0" "10" "2" "207014679" "207014682" "del" "0" "02330" "NDUFS1_000030" "g.207014679_207014682del" "" "" "" "NDUFS1(NM_005006.7):c.154-12_154-9delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149955_206149958del" "" "benign" "" "0000513999" "0" "10" "2" "207014680" "207014682" "del" "0" "02330" "NDUFS1_000031" "g.207014680_207014682del" "" "" "" "NDUFS1(NM_001199983.2):c.-18-11_-18-9delTTT, NDUFS1(NM_005006.6):c.154-11_154-9delTTT, NDUFS1(NM_005006.7):c.154-11_154-9delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149956_206149958del" "" "benign" "" "0000514000" "0" "10" "2" "207014681" "207014682" "del" "0" "02330" "NDUFS1_000012" "g.207014681_207014682del" "" "" "" "NDUFS1(NM_005006.6):c.154-10_154-9delTT, NDUFS1(NM_005006.7):c.154-10_154-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149957_206149958del" "" "benign" "" "0000620924" "0" "50" "2" "207012277" "207012277" "subst" "0.000385812" "02330" "NDUFS1_000032" "g.207012277T>C" "" "" "" "NDUFS1(NM_005006.7):c.529A>G (p.I177V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206147553T>C" "" "VUS" "" "0000620925" "0" "10" "2" "207014682" "207014682" "del" "0" "02330" "NDUFS1_000013" "g.207014682del" "" "" "" "NDUFS1(NM_001199983.2):c.-18-9delT, NDUFS1(NM_005006.6):c.154-9delT, NDUFS1(NM_005006.7):c.154-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206149958del" "" "benign" "" "0000650405" "1" "70" "2" "206994824" "206994824" "subst" "4.06085E-6" "03575" "NDUFS1_000033" "g.206994824T>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224097}" "Germline" "" "rs863224097" "0" "" "" "g.206130100T>A" "" "likely pathogenic" "" "0000650406" "1" "50" "2" "207007482" "207007482" "subst" "7.31006E-5" "03575" "NDUFS1_000034" "g.207007482A>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139690694}" "Germline" "" "rs139690694" "0" "" "" "g.206142758A>T" "" "VUS" "" "0000654498" "0" "30" "2" "207009657" "207009657" "subst" "0" "01943" "NDUFS1_000035" "g.207009657C>T" "" "" "" "NDUFS1(NM_005006.6):c.831G>A (p.M277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206144933C>T" "" "likely benign" "" "0000654499" "0" "50" "2" "207012349" "207012349" "subst" "1.21853E-5" "01943" "NDUFS1_000036" "g.207012349A>G" "" "" "" "NDUFS1(NM_005006.6):c.457T>C (p.F153L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206147625A>G" "" "VUS" "" "0000688603" "0" "30" "2" "207012392" "207012392" "subst" "0.00234383" "01943" "NDUFS1_000037" "g.207012392T>C" "" "" "" "NDUFS1(NM_005006.6):c.421-7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718390" "0" "90" "2" "206994851" "206994851" "subst" "1.21826E-5" "01943" "NDUFS1_000038" "g.206994851G>A" "" "" "" "NDUFS1(NM_005006.6):c.1669C>T (p.R557*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718391" "0" "50" "2" "207012255" "207012255" "subst" "0" "02329" "NDUFS1_000026" "g.207012255C>G" "" "" "" "NDUFS1(NM_005006.7):c.551G>C (p.R184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718392" "0" "90" "2" "207017232" "207017232" "subst" "2.84245E-5" "01943" "NDUFS1_000039" "g.207017232G>A" "" "" "" "NDUFS1(NM_005006.6):c.64C>T (p.R22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800282" "0" "50" "2" "206991447" "206991447" "subst" "0.000207219" "01943" "NDUFS1_000040" "g.206991447T>C" "" "" "" "NDUFS1(NM_005006.6):c.2006A>G (p.N669S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800283" "0" "70" "2" "206997831" "206997831" "subst" "0" "01943" "NDUFS1_000041" "g.206997831T>G" "" "" "" "NDUFS1(NM_005006.6):c.1393-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000839730" "3" "50" "2" "207014619" "207014619" "subst" "0" "02404" "NDUFS1_000042" "g.207014619G>C" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000849657" "0" "50" "2" "206991515" "206991515" "subst" "8.1275E-6" "01943" "NDUFS1_000043" "g.206991515C>G" "" "" "" "NDUFS1(NM_005006.6):c.1938G>C (p.L646F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849658" "0" "10" "2" "207014678" "207014682" "del" "0" "02325" "NDUFS1_000029" "g.207014678_207014682del" "" "" "" "NDUFS1(NM_005006.6):c.154-13_154-9delTTTTT, NDUFS1(NM_005006.7):c.154-13_154-9delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849659" "0" "10" "2" "207014679" "207014682" "del" "0" "02325" "NDUFS1_000030" "g.207014679_207014682del" "" "" "" "NDUFS1(NM_005006.7):c.154-12_154-9delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849660" "0" "10" "2" "207014680" "207014682" "del" "0" "02325" "NDUFS1_000031" "g.207014680_207014682del" "" "" "" "NDUFS1(NM_001199983.2):c.-18-11_-18-9delTTT, NDUFS1(NM_005006.6):c.154-11_154-9delTTT, NDUFS1(NM_005006.7):c.154-11_154-9delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849661" "0" "10" "2" "207014681" "207014682" "del" "0" "02325" "NDUFS1_000012" "g.207014681_207014682del" "" "" "" "NDUFS1(NM_005006.6):c.154-10_154-9delTT, NDUFS1(NM_005006.7):c.154-10_154-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858246" "0" "10" "2" "207014680" "207014682" "del" "0" "01943" "NDUFS1_000031" "g.207014680_207014682del" "" "" "" "NDUFS1(NM_001199983.2):c.-18-11_-18-9delTTT, NDUFS1(NM_005006.6):c.154-11_154-9delTTT, NDUFS1(NM_005006.7):c.154-11_154-9delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858247" "0" "10" "2" "207014682" "207014682" "del" "0" "01943" "NDUFS1_000013" "g.207014682del" "" "" "" "NDUFS1(NM_001199983.2):c.-18-9delT, NDUFS1(NM_005006.6):c.154-9delT, NDUFS1(NM_005006.7):c.154-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974870" "0" "50" "2" "206991305" "206991305" "subst" "0" "01804" "NDUFS1_000044" "g.206991305G>A" "" "" "" "NDUFS1(NM_005006.7):c.2050C>T (p.(Leu684Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974871" "0" "30" "2" "207003230" "207003230" "subst" "0.0112447" "01804" "NDUFS1_000022" "g.207003230C>T" "" "" "" "NDUFS1(NM_005006.7):c.1371G>A (p.(Ser457=), p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974872" "0" "50" "2" "207008762" "207008762" "subst" "2.43688E-5" "01804" "NDUFS1_000045" "g.207008762G>A" "" "" "" "NDUFS1(NM_005006.7):c.967C>T (p.(Leu323Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992383" "0" "10" "2" "207012392" "207012392" "subst" "0.00234383" "01804" "NDUFS1_000037" "g.207012392T>C" "" "" "" "NDUFS1(NM_005006.6):c.421-7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001022400" "1" "50" "2" "207012333" "207012333" "subst" "2.43692E-5" "00006" "NDUFS1_000047" "g.207012333C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PP3, PP4," "Germline" "" "" "0" "" "" "g.206147609C>T" "" "VUS" "" "0001022401" "1" "70" "2" "207014606" "207014606" "subst" "0" "00006" "NDUFS1_000049" "g.207014606T>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PP2, PP3, PP4," "Germline" "" "" "0" "" "" "g.206149882T>A" "" "likely pathogenic" "" "0001022556" "2" "70" "2" "207012484" "207012484" "subst" "0" "00006" "NDUFS1_000048" "g.207012484T>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PP2, PP3, PP4," "Germline" "" "" "0" "" "" "g.206147760T>G" "" "likely pathogenic" "" "0001022557" "2" "90" "2" "207003226" "207003235" "del" "0" "00006" "NDUFS1_000046" "g.207003226_207003235del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PVS1, PS4, PM2, PP4," "Germline" "" "" "0" "" "" "g.206138502_206138511del" "" "pathogenic" "" "0001032903" "0" "50" "2" "206997706" "206997706" "subst" "0.000341386" "01804" "NDUFS1_000050" "g.206997706C>T" "" "" "" "NDUFS1(NM_005006.7):c.1516G>A (p.(Val506Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032904" "0" "50" "2" "206997717" "206997717" "subst" "0.000199156" "01804" "NDUFS1_000006" "g.206997717A>C" "" "" "" "NDUFS1(NM_005006.7):c.1505T>G (p.(Met502Arg), p.M502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032905" "0" "50" "2" "207007472" "207007472" "subst" "0.000219296" "01804" "NDUFS1_000051" "g.207007472C>G" "" "" "" "NDUFS1(NM_005006.7):c.1071G>C (p.(Leu357Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032906" "0" "50" "2" "207009659" "207009659" "subst" "0" "01804" "NDUFS1_000052" "g.207009659T>A" "" "" "" "NDUFS1(NM_005006.7):c.829A>T (p.(Met277Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032907" "0" "90" "2" "207011681" "207011681" "subst" "8.53575E-5" "01804" "NDUFS1_000016" "g.207011681A>G" "" "" "" "NDUFS1(NM_005006.7):c.683T>C (p.(Val228Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 NDUFS1 ## Count = 66 "{{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}}" "0000115918" "00014432" "70" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Pro129Ser)" "6" "0000248990" "00014432" "10" "154" "-9" "154" "-9" "c.154-9del" "r.(=)" "p.(=)" "" "0000248991" "00014432" "10" "154" "-17" "154" "-17" "c.154-17T>C" "r.(=)" "p.(=)" "" "0000249458" "00014432" "30" "1505" "0" "1505" "0" "c.1505T>G" "r.(?)" "p.(Met502Arg)" "" "0000249523" "00014432" "30" "154" "-15" "154" "-15" "c.154-15T>C" "r.(=)" "p.(=)" "" "0000267767" "00014432" "10" "-1384" "0" "-1384" "0" "c.-1384A>G" "r.(?)" "p.(=)" "" "0000296374" "00014432" "10" "1251" "0" "1251" "0" "c.1251A>G" "r.(?)" "p.(Arg417=)" "" "0000296375" "00014432" "30" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Leu431Val)" "" "0000296376" "00014432" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Met)" "" "0000296378" "00014432" "30" "2019" "18" "2019" "18" "c.2019+18A>T" "r.(=)" "p.(=)" "" "0000296379" "00014432" "10" "966" "0" "966" "0" "c.966G>T" "r.(?)" "p.(Ala322=)" "" "0000299941" "00014432" "30" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Leu431Val)" "" "0000302960" "00014432" "10" "154" "-10" "154" "-9" "c.154-10_154-9del" "r.(=)" "p.(=)" "" "0000302961" "00014432" "30" "154" "-8" "154" "-7" "c.154-8_154-7del" "r.(=)" "p.(=)" "" "0000328054" "00014432" "30" "1552" "0" "1552" "0" "c.1552A>G" "r.(?)" "p.(Arg518Gly)" "" "0000328055" "00014432" "50" "339" "-6" "339" "-6" "c.339-6A>C" "r.(=)" "p.(=)" "" "0000337459" "00014432" "90" "737" "3" "737" "3" "c.737+3A>G" "r.spl?" "p.?" "" "0000350408" "00014432" "50" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Val228Ala)" "" "0000513985" "00014432" "50" "1736" "0" "1736" "0" "c.1736T>A" "r.(?)" "p.(Ile579Lys)" "" "0000513986" "00014432" "50" "1708" "2" "1708" "2" "c.1708+2dup" "r.spl?" "p.?" "" "0000513987" "00014432" "50" "1624" "0" "1624" "0" "c.1624C>T" "r.(?)" "p.(Pro542Ser)" "" "0000513988" "00014432" "30" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(Ser457=)" "" "0000513989" "00014432" "30" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Leu431Val)" "" "0000513990" "00014432" "50" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000513991" "00014432" "10" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Leu354=)" "" "0000513992" "00014432" "30" "611" "0" "611" "0" "c.611T>C" "r.(?)" "p.(Met204Thr)" "" "0000513994" "00014432" "10" "339" "-20" "339" "-19" "c.339-20_339-19del" "r.(=)" "p.(=)" "" "0000513995" "00014432" "10" "154" "-14" "154" "-9" "c.154-14_154-9del" "r.(=)" "p.(=)" "" "0000513996" "00014432" "10" "154" "-13" "154" "-9" "c.154-13_154-9del" "r.(=)" "p.(=)" "" "0000513997" "00014432" "10" "154" "-13" "154" "-9" "c.154-13_154-9del" "r.(=)" "p.(=)" "" "0000513998" "00014432" "10" "154" "-12" "154" "-9" "c.154-12_154-9del" "r.(=)" "p.(=)" "" "0000513999" "00014432" "10" "154" "-11" "154" "-9" "c.154-11_154-9del" "r.(=)" "p.(=)" "" "0000514000" "00014432" "10" "154" "-10" "154" "-9" "c.154-10_154-9del" "r.(=)" "p.(=)" "" "0000620924" "00014432" "50" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Ile177Val)" "" "0000620925" "00014432" "10" "154" "-9" "154" "-9" "c.154-9del" "r.(=)" "p.(=)" "" "0000650405" "00014432" "70" "1696" "0" "1696" "0" "c.1696A>T" "r.(?)" "p.(Ile566Phe)" "" "0000650406" "00014432" "50" "1061" "0" "1061" "0" "c.1061T>A" "r.(?)" "p.(Leu354His)" "" "0000654498" "00014432" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Met277Ile)" "" "0000654499" "00014432" "50" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Phe153Leu)" "" "0000688603" "00014432" "30" "421" "-7" "421" "-7" "c.421-7A>G" "r.(=)" "p.(=)" "" "0000718390" "00014432" "90" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Arg557*)" "" "0000718391" "00014432" "50" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Thr)" "" "0000718392" "00014432" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "" "0000800282" "00014432" "50" "2006" "0" "2006" "0" "c.2006A>G" "r.(?)" "p.(Asn669Ser)" "" "0000800283" "00014432" "70" "1393" "-2" "1393" "-2" "c.1393-2A>C" "r.spl?" "p.?" "" "0000839730" "00014432" "50" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Arg62Gly)" "" "0000849657" "00014432" "50" "1938" "0" "1938" "0" "c.1938G>C" "r.(?)" "p.(Leu646Phe)" "" "0000849658" "00014432" "10" "154" "-13" "154" "-9" "c.154-13_154-9del" "r.(=)" "p.(=)" "" "0000849659" "00014432" "10" "154" "-12" "154" "-9" "c.154-12_154-9del" "r.(=)" "p.(=)" "" "0000849660" "00014432" "10" "154" "-11" "154" "-9" "c.154-11_154-9del" "r.(=)" "p.(=)" "" "0000849661" "00014432" "10" "154" "-10" "154" "-9" "c.154-10_154-9del" "r.(=)" "p.(=)" "" "0000858246" "00014432" "10" "154" "-11" "154" "-9" "c.154-11_154-9del" "r.(=)" "p.(=)" "" "0000858247" "00014432" "10" "154" "-9" "154" "-9" "c.154-9del" "r.(=)" "p.(=)" "" "0000974870" "00014432" "50" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Leu684Phe)" "" "0000974871" "00014432" "30" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(Ser457=)" "" "0000974872" "00014432" "50" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Leu323Phe)" "" "0000992383" "00014432" "10" "421" "-7" "421" "-7" "c.421-7A>G" "r.(=)" "p.(=)" "" "0001022400" "00014432" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "" "0001022401" "00014432" "70" "197" "0" "197" "0" "c.197A>T" "r.(?)" "p.(His66Leu)" "" "0001022556" "00014432" "70" "413" "0" "413" "0" "c.413A>C" "r.(?)" "p.(Asp138Ala)" "" "0001022557" "00014432" "90" "1368" "0" "1377" "0" "c.1368_1377del" "r.(?)" "p.(Ser457IlefsTer7)" "" "0001032903" "00014432" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "" "0001032904" "00014432" "50" "1505" "0" "1505" "0" "c.1505T>G" "r.(?)" "p.(Met502Arg)" "" "0001032905" "00014432" "50" "1071" "0" "1071" "0" "c.1071G>C" "r.(?)" "p.(Leu357Phe)" "" "0001032906" "00014432" "50" "829" "0" "829" "0" "c.829A>T" "r.(?)" "p.(Met277Leu)" "" "0001032907" "00014432" "90" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Val228Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000072359" "0000115918" "0000293716" "0000650405" "0000293717" "0000650406" "0000404134" "0000839730" "0000462813" "0001022400" "0000462813" "0001022556" "0000462814" "0001022401" "0000462814" "0001022557"