### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND5) # 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}}" "MT-ND5" "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5" "M" "" "unknown" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ND5" "" "1" "7461" "4540" "516005" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2019-12-24 17:04:19" "" "" "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}}" "00025486" "MT-ND5" "transcript variant 1" "001" "NC_012920.1(ND5_v001)" "" "" "" "" "" "1" "1812" "1812" "12337" "14148" "00006" "2019-12-28 19:35:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02274" "LHON" "Leber hereditary optic neuropathy" "AR;Mi" "535000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-09-29 11:06:24" "02275" "MELAS" "myopathy, mitochondrial, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)" "" "540000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00274168" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat34" "00274169" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat35" "00329130" "" "" "" "1" "" "03952" "{PMID:Li 2020:32855858}" "" "?" "" "China" "" "" "" "" "" "" "00359598" "" "" "" "1" "" "00095" "" "" "M" "no" "Morocco" "" "" "" "" "" "" "00359599" "" "" "" "1" "" "00095" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00399256" "" "" "" "1" "" "01164" "" "" "F" "no" "" "" "0" "" "" "" "190590" "00427142" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U5a1, individual 19" "" "" "" "" "0" "" "" "" "U5a1_19" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00274168" "00198" "00274169" "00198" "00329130" "05684" "00359598" "02274" "00359599" "02274" "00399256" "02275" "00427142" "04216" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02274, 02275, 04216, 05684 ## Count = 7 "{{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}}" "0000209113" "00198" "00274168" "00006" "Isolated (sporadic)" "" "involvement basal ganglia; mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209114" "00198" "00274169" "00006" "Isolated (sporadic)" "" "deceased; mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000247328" "05684" "00329130" "03952" "Familial, autosomal recessive" "" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);" "" "10y" "" "" "" "" "" "" "" "" "" "0000254870" "02274" "00359598" "00095" "Maternal, mitochondrial" "" "acute painless vision loss" ">40y" "" "" "" "" "" "" "" "" "Optic neuropathy" "" "0000254871" "02274" "00359599" "00095" "Maternal, mitochondrial" "" "Optic neuropathy HP:0001138" "" "20y-40y" "" "" "" "" "" "" "" "" "" "0000292366" "02275" "00399256" "01164" "Unknown" "03y" "Cerebral palsy, Global developmental delay, Strabismus, Spasticity" "" "" "" "" "" "" "" "" "" "" "" "0000318159" "04216" "00427142" "00000" "Maternal, mitochondrial" "" "external ophthalmoplegia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000275323" "00274168" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275324" "00274169" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330350" "00329130" "1" "03952" "03952" "2021-02-05 08:28:56" "00091" "2022-06-09 08:06:56" "SEQ-NG" "DNA" "" "" "0000360828" "00359598" "1" "00095" "00095" "2021-03-30 11:50:47" "" "" "SEQ" "DNA" "blood" "whole mtDNA" "0000360829" "00359599" "1" "00095" "00095" "2021-03-30 12:13:52" "" "" "SEQ" "DNA" "blood" "whole mtDNA" "0000400499" "00399256" "1" "01164" "01164" "2022-01-18 10:41:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000428463" "00427142" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000275323" "MT-ND5" "0000275324" "MT-ND5" "0000330350" "MT-ND5" "0000330350" "RTN4IP1" "0000360828" "MT-ND5" "0000360829" "MT-ND5" "0000400499" "MT-ND5" "0000428463" "MT-ND2" ## 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 = 15 "{{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}}" "0000629287" "0" "90" "M" "12706" "12706" "subst" "0" "00006" "MT-ND5_000002" "m.12706T>C" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "heteroplasmic\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "m.12706T>C" "" "pathogenic (dominant)" "" "0000629288" "0" "90" "M" "13513" "13513" "subst" "0" "00006" "MT-ND5_000001" "m.13513G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "heteroplasmic\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "m.13513G>A" "" "pathogenic (dominant)" "" "0000736602" "0" "30" "M" "12338" "12338" "subst" "0" "03952" "MT-ND5_000003" "m.12338T>C" "" "{PMID:Li 2020:32855858}" "" "ND1 m.12338T>C + RTN4IP1 c.308G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "{CV:29999}" "likely benign (recessive)" "" "0000760931" "20" "50" "M" "13340" "13340" "subst" "0" "00095" "MT-ND5_000004" "m.13340T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "m.13340T>C" "" "VUS" "" "0000760932" "21" "50" "M" "13379" "13379" "subst" "0" "00095" "MT-ND5_000005" "m.13379A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "m.13379A>G" "" "VUS" "" "0000833411" "0" "50" "M" "14021" "14021" "subst" "0" "01164" "MT-ND5_000006" "m.14021T>C" "" "" "" "" "VAF 10% in blood, not detectable in maternal DNA sample" "De novo" "?" "" "0" "" "" "m.14021T>C" "" "VUS" "ACMG" "0000906276" "20" "50" "M" "14110" "14110" "subst" "0" "00000" "MT-ND5_000007" "m.14110T>C" "" "{PMID:Widgren 2016:26448634}" "" "ND5 - F592L, 14110 C" "" "Unknown" "?" "" "0" "" "" "m.14110T>C" "" "VUS" "" "0000927439" "0" "10" "M" "14905" "14905" "subst" "0" "02326" "MT-CO1_000007" "m.14905G>A" "" "" "" "MT-CYB(NC_012920.1):m.14905G>A (p.M53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984896" "0" "50" "M" "14279" "14279" "subst" "0" "01804" "MT-CO1_000008" "m.14279G>A" "" "" "" "MT-ND6(ENST00000361681.2):c.395C>T (p.(Ser132Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044552" "0" "90" "M" "1494" "1494" "subst" "0" "02326" "MT-CO1_000009" "m.1494C>T" "" "" "" "MT-RNR1(NC_012920.1):m.1494C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044553" "0" "10" "M" "4295" "4295" "subst" "0" "02326" "MT-CO1_000010" "m.4295A>G" "" "" "" "MT-TI(NC_012920.1):m.4295A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044554" "0" "50" "M" "8010" "8010" "subst" "0" "01804" "MT-CO1_000011" "m.8010T>C" "" "" "" "MT-CO2(ENST00000361739.1):c.425T>C (p.(Val142Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044555" "0" "30" "M" "8527" "8527" "subst" "0" "01804" "MT-CO1_000012" "m.8527A>G" "" "" "" "MT-ATP6(ENST00000361899.2):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044556" "0" "30" "M" "9804" "9804" "subst" "0" "01804" "MT-CO1_000013" "m.9804G>A" "" "" "" "MT-CO3(ENST00000362079.2):c.598G>A (p.(Ala200Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057461" "0" "50" "M" "9017" "9017" "subst" "0" "01804" "MT-CO1_000014" "m.9017T>C" "" "" "" "MT-ATP6(ENST00000361899.2):c.491T>C (p.(Ile164Thr))" "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 MT-ND5 ## Count = 15 "{{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}}" "0000629287" "00025486" "90" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Phe124Leu)" "" "0000629288" "00025486" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Asp393Asn)" "" "0000736602" "00025486" "30" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000760931" "00025486" "50" "1004" "0" "1004" "0" "c.1004T>C" "r.(1004u>c)" "p.(Phe335Ser)" "" "0000760932" "00025486" "50" "1043" "0" "1043" "0" "c.1043A>G" "r.(1043a>g)" "p.(His348Arg)" "" "0000833411" "00025486" "50" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Ser)" "" "0000906276" "00025486" "50" "1774" "0" "1774" "0" "c.1774T>C" "r.(?)" "p.(Phe592Leu)" "" "0000927439" "00025486" "10" "2569" "0" "2569" "0" "c.*757G>A" "r.(=)" "p.(=)" "" "0000984896" "00025486" "50" "1943" "0" "1943" "0" "c.*131G>A" "r.(=)" "p.(=)" "" "0001044552" "00025486" "90" "-10843" "0" "-10843" "0" "c.-10843C>T" "r.(?)" "p.(=)" "" "0001044553" "00025486" "10" "-8042" "0" "-8042" "0" "c.-8042A>G" "r.(?)" "p.(=)" "" "0001044554" "00025486" "50" "-4327" "0" "-4327" "0" "c.-4327T>C" "r.(?)" "p.(=)" "" "0001044555" "00025486" "30" "-3810" "0" "-3810" "0" "c.-3810A>G" "r.(?)" "p.(=)" "" "0001044556" "00025486" "30" "-2533" "0" "-2533" "0" "c.-2533G>A" "r.(?)" "p.(=)" "" "0001057461" "00025486" "50" "-3320" "0" "-3320" "0" "c.-3320T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000275323" "0000629287" "0000275324" "0000629288" "0000330350" "0000736602" "0000360828" "0000760931" "0000360829" "0000760932" "0000400499" "0000833411" "0000428463" "0000906276"