### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND2) # 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-ND2" "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2" "M" "" "no" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ND2" "" "1" "7456" "4536" "516001" "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" "2022-01-18 15:14:00" "" "" "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}}" "00025763" "MT-ND2" "transcript variant 1" "001" "NC_012920.1(ND2_v001)" "" "" "" "" "" "1" "1042" "1042" "4470" "5511" "03840" "2022-12-05 13:43:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00427124" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U5a, individual 8" "" "" "" "" "0" "" "" "" "U5a_8" "00427126" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup T2, individual 10" "" "" "" "" "0" "" "" "" "T2_10" "00427127" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup V1, individual 12" "" "" "" "" "0" "" "" "" "V1_12" "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 = 4 "{{individualid}}" "{{diseaseid}}" "00427124" "04214" "00427126" "04214" "00427127" "04214" "00427142" "04216" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 04216 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000318141" "04214" "00427124" "00000" "Maternal, mitochondrial" "" "retinal degeneration and nystagmus" "" "" "" "" "" "" "" "" "" "0000318143" "04214" "00427126" "00000" "Maternal, mitochondrial" "" "optic neuropathy" "" "" "" "" "" "" "" "" "" "0000318144" "04214" "00427127" "00000" "Maternal, mitochondrial" "" "external ophthalmoplegia" "" "" "" "" "" "" "" "" "" "0000318159" "04216" "00427142" "00000" "Maternal, mitochondrial" "" "external ophthalmoplegia" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000428445" "00427124" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428447" "00427126" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428448" "00427127" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "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 = 4 "{{screeningid}}" "{{geneid}}" "0000428445" "MT-ND2" "0000428447" "MT-ND2" "0000428448" "MT-ND2" "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 = 12 "{{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}}" "0000906241" "20" "50" "M" "4732" "4732" "subst" "0" "00000" "MT-ND2_000002" "m.4732A>G" "" "{PMID:Widgren 2016:26448634}" "" "ND2 - N88S, 4732 G" "" "Unknown" "?" "" "0" "" "" "m.4732A>G" "" "VUS" "" "0000906243" "20" "50" "M" "5277" "5277" "subst" "0" "00000" "MT-ND2_000004" "m.5277T>C" "" "{PMID:Widgren 2016:26448634}" "" "ND2 - F270L, 5277 C" "" "Unknown" "?" "" "0" "" "" "m.5277T>C" "" "VUS" "" "0000906244" "20" "50" "M" "4639" "4639" "subst" "0" "00000" "MT-ND2_000001" "m.4639T>C" "" "{PMID:Widgren 2016:26448634}" "" "ND2 - I57T, 4639 C" "" "Unknown" "?" "" "0" "" "" "m.4639T>C" "" "VUS" "" "0000906259" "20" "50" "M" "4924" "4924" "subst" "0" "00000" "MT-ND2_000003" "m.4924G>C" "" "{PMID:Widgren 2016:26448634}" "" "ND2 - S152T, 4924 C" "" "Unknown" "?" "" "0" "" "" "m.4924G>C" "" "VUS" "" "0000906268" "20" "70" "M" "8869" "8869" "subst" "0" "00000" "MT-ND2_000005" "m.8869A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - M115V, 8869 G" "" "Unknown" "?" "" "0" "" "" "m.8869A>G" "" "likely pathogenic" "" "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" "" ## 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-ND2 ## Count = 12 "{{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}}" "0000906241" "00025763" "50" "263" "0" "263" "0" "c.263A>G" "r.(?)" "p.(Asn88Ser)" "" "0000906243" "00025763" "50" "808" "0" "808" "0" "c.808T>C" "r.(?)" "p.(Phe270Leu)" "" "0000906244" "00025763" "50" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Ile57Thr)" "" "0000906259" "00025763" "50" "455" "0" "455" "0" "c.455G>C" "r.(?)" "p.(Ser152Thr)" "" "0000906268" "00025763" "70" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Met115Val)" "" "0000927439" "00025763" "10" "10436" "0" "10436" "0" "c.*9394G>A" "r.(=)" "p.(=)" "" "0000984896" "00025763" "50" "9810" "0" "9810" "0" "c.*8768G>A" "r.(=)" "p.(=)" "" "0001044552" "00025763" "90" "-2976" "0" "-2976" "0" "c.-2976C>T" "r.(?)" "p.(=)" "" "0001044553" "00025763" "10" "-175" "0" "-175" "0" "c.-175A>G" "r.(?)" "p.(=)" "" "0001044554" "00025763" "50" "3541" "0" "3541" "0" "c.*2499T>C" "r.(=)" "p.(=)" "" "0001044555" "00025763" "30" "4058" "0" "4058" "0" "c.*3016A>G" "r.(=)" "p.(=)" "" "0001044556" "00025763" "30" "5335" "0" "5335" "0" "c.*4293G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000428445" "0000906241" "0000428447" "0000906243" "0000428448" "0000906244" "0000428448" "0000906268" "0000428463" "0000906259"