### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C19orf70)
# 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}}"
"C19orf70" "chromosome 19 open reading frame 70" "19" "p13.3" "unknown" "NC_000019.9" "UD_136085993780" "" "http://www.LOVD.nl/MICOS13" "" "1" "33702" "125988" "616658" "1" "1" "1" "1" "NOTE: gene name changed from C19orf70 to MICOS13\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C19orf70 to MICOS13" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:17:09" "00006" "2026-04-16 19:11:36"
## 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}}"
"00004156" "C19orf70" "chromosome 19 open reading frame 70" "001" "NM_205767.1" "" "NP_991330.1" "" "" "" "-414" "486" "357" "5680911" "5678433" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" ""
"06439" "COXPD37" "Combined oxidative phosphorylation deficiency 37" "AR" "618329" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C19orf70" "06439"
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00476705" "" "" "" "1" "" "00006" "{PMID:Gedikbasi 2023:37377599}" "patient" "M" "" "Turkey" "" "0" "" "" "" "Fam9Pat12"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00476705" "05534"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05534, 06439
## Count = 1
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000361379" "05534" "00476705" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; urine organic acid analysis mitochondrial disease-related excretion; no ragged red fibers; cranial MRI T2W sagittal seq, atrophy of the cerebellum, brainstem, and corpus callosum, T2W hyperintensities periventricular deep white matter" "1d" "" "" "" "" "COXPD37" "mitochondrial disease"
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000478349" "00476705" "1" "00006" "00006" "2026-04-16 19:04:47" "00006" "2026-04-16 19:11:36" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000478349" "C19orf70"
## 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}}"
"0000326077" "0" "50" "19" "5679648" "5679648" "subst" "1.64468E-5" "01804" "C19orf70_000001" "g.5679648C>T" "" "" "" "C19orf70(NM_205767.1):c.156G>A (p.(Met52Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5679637C>T" "" "VUS" ""
"0000326078" "0" "50" "19" "5691536" "5691536" "subst" "0.00172326" "01804" "RPL36_000001" "g.5691536C>T" "" "" "" "RPL36(NM_015414.3):c.229-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5691525C>T" "" "VUS" ""
"0000568565" "0" "30" "19" "5688153" "5688153" "subst" "6.77782E-6" "01804" "C19orf70_000002" "g.5688153G>A" "" "" "" "HSD11B1L(NM_001267868.1):c.*197G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5688142G>A" "" "likely benign" ""
"0000568566" "0" "30" "19" "5692192" "5692192" "subst" "0.0243758" "01804" "C19orf70_000003" "g.5692192C>T" "" "" "" "LONP1(NM_001276479.1):c.2539G>A (p.(Val847Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5692181C>T" "" "likely benign" ""
"0000681519" "0" "90" "19" "5679661" "5679661" "del" "0" "02327" "C19orf70_000006" "g.5679661del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000681520" "0" "70" "19" "5680197" "5680197" "subst" "0" "02327" "C19orf70_000007" "g.5680197C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000681521" "0" "30" "19" "5691531" "5691531" "subst" "0.0412774" "01804" "C19orf70_000008" "g.5691531C>T" "" "" "" "RPL36(NM_015414.3):c.229-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809070" "0" "30" "19" "5692093" "5692093" "subst" "8.13418E-6" "01804" "C19orf70_000009" "g.5692093C>G" "" "" "" "LONP1(NM_001276479.1):c.2638G>C (p.(Asp880His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000951363" "0" "30" "19" "5687813" "5687813" "subst" "0.000232567" "01804" "C19orf70_000010" "g.5687813G>A" "" "" "" "HSD11B1L(NM_001267868.1):c.859G>A (p.(Val287Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000970004" "0" "70" "19" "5679630" "5679630" "subst" "0" "02327" "C19orf70_000011" "g.5679630G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000970006" "0" "50" "19" "5692207" "5692207" "subst" "8.17227E-6" "02325" "C19orf70_000012" "g.5692207C>A" "" "" "" "LONP1(NM_004793.4):c.2716G>T (p.G906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005167" "0" "50" "19" "5693409" "5693409" "subst" "0" "01804" "C19orf70_000013" "g.5693409G>A" "" "" "" "LONP1(NM_004793.3):c.2603C>T (p.(Ala868Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001056441" "0" "30" "19" "5692223" "5692223" "subst" "8.26877E-6" "01804" "C19orf70_000014" "g.5692223G>C" "" "" "" "LONP1(NM_004793.4):c.2704-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001056442" "0" "50" "19" "5693470" "5693470" "subst" "0.00015161" "01804" "C19orf70_000015" "g.5693470C>T" "" "" "" "LONP1(NM_004793.4):c.2542G>A (p.(Ala848Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001074012" "3" "90" "19" "5678661" "5678661" "subst" "0" "00006" "C19orf70_000016" "g.5678661T>C" "" "{PMID:Gedikbasi 2023:37377599}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1064797230" "0" "" "" "g.5678650T>C" "VCV000425157.15" "pathogenic (recessive)" ""
## 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 C19orf70
## 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}}"
"0000326077" "00004156" "50" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Met52Ile)" ""
"0000326078" "00004156" "50" "-11039" "0" "-11039" "0" "c.-11039G>A" "r.(?)" "p.(=)" ""
"0000568565" "00004156" "30" "-7656" "0" "-7656" "0" "c.-7656C>T" "r.(?)" "p.(=)" ""
"0000568566" "00004156" "30" "-11695" "0" "-11695" "0" "c.-11695G>A" "r.(?)" "p.(=)" ""
"0000681519" "00004156" "90" "143" "0" "143" "0" "c.143del" "r.(?)" "p.(Val48AlafsTer42)" ""
"0000681520" "00004156" "70" "29" "272" "29" "272" "c.29+272G>C" "r.(=)" "p.(=)" ""
"0000681521" "00004156" "30" "-11034" "0" "-11034" "0" "c.-11034G>A" "r.(?)" "p.(=)" ""
"0000809070" "00004156" "30" "-11596" "0" "-11596" "0" "c.-11596G>C" "r.(?)" "p.(=)" ""
"0000951363" "00004156" "30" "-7316" "0" "-7316" "0" "c.-7316C>T" "r.(?)" "p.(=)" ""
"0000970004" "00004156" "70" "174" "0" "174" "0" "c.174C>A" "r.(?)" "p.(Tyr58*)" ""
"0000970006" "00004156" "50" "-11710" "0" "-11710" "0" "c.-11710G>T" "r.(?)" "p.(=)" ""
"0001005167" "00004156" "50" "-12912" "0" "-12912" "0" "c.-12912C>T" "r.(?)" "p.(=)" ""
"0001056441" "00004156" "30" "-11726" "0" "-11726" "0" "c.-11726C>G" "r.(?)" "p.(=)" ""
"0001056442" "00004156" "50" "-12973" "0" "-12973" "0" "c.-12973G>A" "r.(?)" "p.(=)" ""
"0001074012" "00004156" "90" "260" "-2" "260" "-2" "c.260-2A>G" "r.[260_280del,260_303del]" "p.[Gly87_Ser93del,Ile88ProfsTer?]" "3i"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000478349" "0001074012"