### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ATP6) # 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-ATP6" "mitochondrially encoded ATP synthase membrane subunit 6" "M" "" "no" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ATP6" "" "1" "7414" "4508" "516060" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2018-08-24 19:48:34" "" "" "00006" "2025-10-10 16:21:07" ## 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}}" "00025318" "MT-ATP6" "transcript variant 1" "001" "NC_012920.1(ATP6_v001)" "" "" "" "" "" "1" "681" "681" "8527" "9207" "00006" "2018-08-24 19:52:22" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00180182" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat34" "00209040" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat90" "00274166" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat32" "00314862" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "Israel" "" "0" "" "" "" "Trio8" "00395578" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1157" "00405097" "" "" "" "1" "" "04278" "{DOI:Liu 2022:10.1002/humu.24390}" "" "F" "" "Pakistan" "" "0" "" "" "" "20_GGM_BL" "00408672" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat18" "00427121" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup I1, individual 1" "" "" "" "" "0" "" "" "" "I1_1" "00427122" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup I1, individual 4" "" "" "" "" "0" "" "" "" "I1_4" "00427123" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup J 1, individual 5" "" "" "" "" "0" "" "" "" "J 1_5" "00427129" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup W2, individual 18" "" "" "" "" "0" "" "" "" "W2_18" "00427130" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup H2, individual 20" "" "" "" "" "0" "" "" "" "H2_20" "00427139" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U7, individual 35" "" "" "" "" "0" "" "" "" "U7_35" "00434055" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00464067" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00467275" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH067" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00180182" "00198" "00209040" "05534" "00274166" "00198" "00314862" "00198" "00395578" "04214" "00405097" "00000" "00408672" "00198" "00427121" "04214" "00427122" "04214" "00427123" "04214" "00427129" "04214" "00427130" "04214" "00427139" "04214" "00434055" "00198" "00464067" "05356" "00467275" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04214, 05356, 05534 ## Count = 15 "{{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}}" "0000142636" "00198" "00180182" "00006" "Maternal, mitochondrial" "" "(Neonatal) seizures (HP:0001250), global developmental delay (HP:0001263), infantile muscular hypotonia (HP:0008947), respiratory difficulties (HP:0002795), skeletal myopathy (HP:0003756), episodic metabolic acidosis (HP:0004911). Head MRI: focal T2 hyperintense basal ganglia lesions (HP:0007183), necrotizing encephalopathy (HP:0006976), death in infancy (HP:0001522). Lactic acidosis (HP:0003128)." "" "" "" "" "" "" "" "" "" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000157646" "05534" "00209040" "00006" "Maternal, mitochondrial" "" "suspected mitochondrial disorder" "" "" "" "" "" "" "" "" "LS" "suspected mitochondrial disorder" "" "0000209111" "00198" "00274166" "00006" "Maternal, mitochondrial" "" "deceased; involvement basal ganglia; mitochondrial disease criteria score 5; muscle biopsy from autopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000238620" "00198" "00314862" "00006" "Isolated (sporadic)" "4y" "Leigh syndrome, regression at 7-8 month of age with hypsarrhythmia, basal ganglia and brain stem necrosis and cortical atrophy." "4m" "" "" "" "" "" "" "" "" "" "" "0000288776" "04214" "00395578" "00000" "Maternal, mitochondrial" "" "rod-cone dystrophy, abnormality of serum amino acid levels, hyperglycinemia, global developmental delay, intellectual disability, mild, poor motor coordination, pes cavus, slender and long fingers, abnormality of the teeth, coarse facial features, low posterior hairline, mandibular prognathia, dry skin" "" "" "" "" "" "" "" "" "Neuroptic atrophythy, ataxia, and retinitis pigmentosa syndrome" "" "" "0000300790" "00198" "00408672" "00006" "Maternal, mitochondrial" "" "" "11y" "" "" "" "" "" "" "" "NARP" "cerebellar ataxia" "" "0000318138" "04214" "00427121" "00000" "Maternal, mitochondrial" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000318139" "04214" "00427122" "00000" "Maternal, mitochondrial" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000318140" "04214" "00427123" "00000" "Maternal, mitochondrial" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000318146" "04214" "00427129" "00000" "Maternal, mitochondrial" "" "retinal degeneration and nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000318147" "04214" "00427130" "00000" "Maternal, mitochondrial" "" "optic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000318156" "04214" "00427139" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000324434" "00198" "00434055" "03544" "Unknown" "" "developmental delay, brain abnormality, Dandy-Walker malformation, visual defect, orthopaedic abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000350128" "05356" "00464067" "03544" "Familial" "" "HP:0002073, HP:0007002, HP:0032316" "" "" "" "" "" "" "" "" "mitochondrial disorder" "ataxia" "" "0000352482" "00198" "00467275" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181085" "00180182" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000210097" "00209040" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000275321" "00274166" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316036" "00314862" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000396816" "00395578" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "mtDNA seq" "0000406339" "00405097" "1" "04278" "04278" "2022-03-16 00:39:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000409934" "00408672" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000428442" "00427121" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428443" "00427122" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428444" "00427123" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428450" "00427129" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428451" "00427130" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428460" "00427139" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000435518" "00434055" "1" "03544" "03544" "2023-03-18 14:01:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000465698" "00464067" "1" "03544" "03544" "2025-02-19 14:25:58" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468938" "00467275" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000210097" "MT-ATP6" "0000275321" "MT-ATP6" "0000316036" "MT-ATP6" "0000396816" "MT-ATP6" "0000406339" "MT-CO1" "0000406339" "MT-CO2" "0000406339" "MT-ND2" "0000406339" "MT-ND5" "0000406339" "MT-RNR2" "0000428442" "MT-ATP6" "0000428443" "MT-ATP6" "0000428444" "MT-ATP6" "0000428450" "MT-ND1" "0000428451" "MT-ATP6" "0000428460" "MT-ATP6" ## 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 = 29 "{{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}}" "0000404721" "20" "90" "M" "8993" "8993" "subst" "0" "00006" "MT-ATP6_000001" "m.8993T>G" "" "{PMID:Tumienė 2018:29286531}" "" "" "homoplasmic" "Germline" "" "" "0" "" "" "g.8992C>G" "" "pathogenic" "ACMG" "0000441266" "21" "90" "M" "9185" "9185" "subst" "0" "00006" "MT-ATP6_000002" "m.9185T>C" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.9184=" "" "pathogenic (maternal)" "" "0000477902" "20" "50" "M" "8584" "8584" "subst" "0" "03280" "MT-ATP6_000003" "m.8584G>A" "12/90 (0.120)" "{PMID:International HapMap 3 Consortium2010:20811451}" "" "" "Variant 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." "Somatic" "-" "rs3135028" "0" "" "" "m.8584G>A" "" "VUS" "" "0000629285" "3" "90" "M" "9185" "9185" "subst" "0" "00006" "MT-ATP6_000002" "m.9185T>C" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "homoplasmic\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." "Germline" "" "" "0" "" "" "m.9185T>C" "" "pathogenic (dominant)" "" "0000698162" "0" "90" "M" "9173" "9173" "subst" "0" "00006" "MT-ATP6_000004" "m.9173T>G" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "m.9173T>G" "" "pathogenic (dominant)" "" "0000828501" "21" "90" "M" "8993" "8993" "subst" "0" "00000" "MT-ATP6_000001" "m.8993T>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "MT-ATP6, m.8993T>G, p.Leu156Arg, Mitochondrial" "" "Unknown" "?" "" "0" "" "" "m.8993T>G" "" "pathogenic" "ACMG" "0000842660" "20" "90" "M" "7859" "7859" "subst" "0" "04278" "MT-ATP6_000005" "m.7859A>G" "heteroplasmy 0.054" "{DOI:Liu 2022:10.1002/humu.24390}" "ql321" "" "variant classification according to Mitomap database" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "other" "0000847150" "20" "90" "M" "9030" "9030" "subst" "0" "00006" "MT-ATP6_000006" "m.9030T>C" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "m.9030T>C" "" "pathogenic" "ACMG" "0000906238" "20" "70" "M" "8638" "8638" "subst" "0" "00000" "MT-ATP6_000007" "m.8638A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - I38V, 8638 G" "" "Unknown" "?" "" "0" "" "" "m.8638A>G" "" "likely pathogenic" "" "0000906239" "20" "70" "M" "8638" "8638" "subst" "0" "00000" "MT-ATP6_000007" "m.8638A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - I38V, 8638 G" "" "Unknown" "?" "" "0" "" "" "m.8638A>G" "" "likely pathogenic" "" "0000906240" "20" "70" "M" "8923" "8923" "subst" "0" "00000" "MT-ATP6_000014" "m.8923A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - T133A, 8923 G" "" "Unknown" "?" "" "0" "" "" "m.8923A>G" "" "likely pathogenic" "" "0000906247" "20" "50" "M" "8842" "8842" "subst" "0" "00000" "MT-ATP6_000012" "m.8842A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - I106V, 8842 G" "" "Unknown" "?" "" "0" "" "" "m.8842A>G" "" "VUS" "" "0000906256" "20" "50" "M" "8684" "8684" "subst" "0" "00000" "MT-ATP6_000009" "m.8684C>T" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - T53I, 8684 T" "" "Unknown" "?" "" "0" "" "" "m.8684C>T" "" "VUS" "" "0000906261" "20" "50" "M" "8756" "8756" "subst" "0" "00000" "MT-ATP6_000011" "m.8756T>C" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - I77T, 8756 C" "" "Unknown" "?" "" "0" "" "" "m.8756T>C" "" "VUS" "" "0000906262" "20" "50" "M" "8711" "8711" "subst" "0" "00000" "MT-ATP6_000010" "m.8711A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - N62S, 8711 G" "" "Unknown" "?" "" "0" "" "" "m.8711A>G" "" "VUS" "" "0000906264" "20" "50" "M" "8756" "8756" "subst" "0" "00000" "MT-ATP6_000011" "m.8756T>C" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - I77T, 8756 C" "" "Unknown" "?" "" "0" "" "" "m.8756T>C" "" "VUS" "" "0000906265" "20" "50" "M" "8711" "8711" "subst" "0" "00000" "MT-ATP6_000010" "m.8711A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - N62S, 8711 G" "" "Unknown" "?" "" "0" "" "" "m.8711A>G" "" "VUS" "" "0000906270" "20" "70" "M" "8887" "8887" "subst" "0" "00000" "MT-ATP6_000013" "m.8887A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - I121V, 8887 G" "" "Unknown" "?" "" "0" "" "" "m.8887A>G" "" "likely pathogenic" "" "0000906271" "20" "50" "M" "8659" "8659" "subst" "0" "00000" "MT-ATP6_000008" "m.8659A>G" "" "{PMID:Widgren 2016:26448634}" "" "ATP6 - T45A, 8659 G" "" "Unknown" "?" "" "0" "" "" "m.8659A>G" "" "VUS" "" "0000921531" "0" "90" "M" "8993" "8993" "subst" "0" "03544" "MT-ATP6_000015" "m.8993T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "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" "" "0001029393" "0" "90" "M" "9176" "9176" "subst" "0" "03544" "MT-ATP6_000016" "m.9176T>C" "" "" "" "" "" "Germline" "yes" "rs199476135" "0" "" "" "" "{CV:9644}" "pathogenic" "ACMG" "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" "" "0001049032" "21" "90" "M" "8993" "8993" "subst" "0" "00006" "MT-ATP6_000001" "m.8993T>G" "" "{PMID:Soden 2014:25473036}" "" "m.8993T>G" "" "De novo" "" "" "0" "" "" "m.8993T>G" "" "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 MT-ATP6 ## Count = 29 "{{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}}" "0000404721" "00025318" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Leu156Arg)" "-" "0000441266" "00025318" "90" "659" "0" "659" "0" "c.659T>C" "r.(?)" "-" "" "0000477902" "00025318" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "-" "" "0000629285" "00025318" "90" "659" "0" "659" "0" "c.659T>C" "r.(?)" "p.(Leu220Pro)" "" "0000698162" "00025318" "90" "647" "0" "647" "0" "c.647T>G" "r.(?)" "p.(Leu216Arg)" "" "0000828501" "00025318" "90" "8993" "" "8993" "" "m.8993T>G" "r.(?)" "p.(Leu156Arg)" "" "0000842660" "00025318" "00" "" "" "" "" "" "" "" "" "0000847150" "00025318" "00" "" "" "" "" "" "" "" "" "0000906238" "00025318" "70" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Ile38Val)" "" "0000906239" "00025318" "70" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Ile38Val)" "" "0000906240" "00025318" "70" "397" "0" "397" "0" "c.397A>G" "r.(?)" "p.(Thr133Ala)" "" "0000906247" "00025318" "50" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" "" "0000906256" "00025318" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Thr53Ile)" "" "0000906261" "00025318" "50" "230" "0" "230" "0" "c.230T>C" "r.(?)" "p.(Ile77Thr)" "" "0000906262" "00025318" "50" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Asn62Ser)" "" "0000906264" "00025318" "50" "230" "0" "230" "0" "c.230T>C" "r.(?)" "p.(Ile77Thr)" "" "0000906265" "00025318" "50" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Asn62Ser)" "" "0000906270" "00025318" "70" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Ile121Val)" "" "0000906271" "00025318" "50" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.(Thr45Ala)" "" "0000921531" "00025318" "90" "467" "0" "467" "0" "c.467T>C" "r.(?)" "-" "" "0000927439" "00025318" "10" "6379" "0" "6379" "0" "c.*5698G>A" "r.(=)" "p.(=)" "" "0000984896" "00025318" "50" "5753" "0" "5753" "0" "c.*5072G>A" "r.(=)" "p.(=)" "" "0001029393" "00025318" "90" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Leu217Pro)" "1" "0001044552" "00025318" "90" "-7033" "0" "-7033" "0" "c.-7033C>T" "r.(?)" "p.(=)" "" "0001044553" "00025318" "10" "-4232" "0" "-4232" "0" "c.-4232A>G" "r.(?)" "p.(=)" "" "0001044554" "00025318" "50" "-517" "0" "-517" "0" "c.-517T>C" "r.(?)" "p.(=)" "" "0001044555" "00025318" "30" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001044556" "00025318" "30" "1278" "0" "1278" "0" "c.*597G>A" "r.(=)" "p.(=)" "" "0001049032" "00025318" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000181085" "0000404721" "0000210097" "0000441266" "0000275321" "0000629285" "0000316036" "0000698162" "0000396816" "0000828501" "0000406339" "0000842660" "0000409934" "0000847150" "0000428442" "0000906238" "0000428442" "0000906261" "0000428442" "0000906262" "0000428443" "0000906239" "0000428443" "0000906264" "0000428443" "0000906265" "0000428444" "0000906240" "0000428450" "0000906270" "0000428450" "0000906271" "0000428451" "0000906247" "0000428460" "0000906256" "0000435518" "0000921531" "0000465698" "0001029393" "0000468938" "0001049032"