### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C17orf89)
# 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}}"
"C17orf89" "chromosome 17 open reading frame 89" "17" "q25.3" "unknown" "NC_000017.10" "UD_136085982478" "" "https://www.LOVD.nl/NDUFAF8" "" "1" "33551" "284184" "0" "1" "1" "1" "1" "NOTE: gene name changed from C17orf89 to NDUFAF8\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C17orf89 to NDUFAF8" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-26 14:46:30" "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}}"
"00004108" "C17orf89" "chromosome 17 open reading frame 89" "001" "NM_001086521.1" "" "NP_001079990.1" "" "" "" "-53" "507" "225" "79213111" "79215098" "" "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}}"
"00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07"
"06388" "MC1DN34" "Mi complex I deficiency, nuclear type 34" "AR" "618776" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"C17orf89" "00038"
"C17orf89" "06388"
## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00274234" "" "" "" "1" "" "00006" "{PMID:Alston 2020:31866046}, {DOI:Alston:10.1016/j.ajhg.2019.12.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat"
"00274235" "" "" "" "1" "" "00006" "{PMID:Alston 2020:31866046}, {DOI:Alston:10.1016/j.ajhg.2019.12.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "white" "Fam2Pat"
"00274236" "" "" "" "1" "" "00006" "{PMID:Alston 2020:31866046}, {DOI:Alston:10.1016/j.ajhg.2019.12.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "white" "Fam3Pat"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00274234" "00038"
"00274235" "00038"
"00274236" "00038"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00038, 06388
## Count = 3
"{{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}}"
"0000209179" "00038" "00274234" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Leigh syndrome"
"0000209180" "00038" "00274235" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Leigh syndrome"
"0000209181" "00038" "00274236" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Leigh syndrome"
## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000275393" "00274234" "1" "00006" "00006" "2019-12-26 14:59:26" "00006" "2019-12-26 15:13:16" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000275394" "00274235" "1" "00006" "00006" "2019-12-26 14:59:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275395" "00274236" "1" "00006" "00006" "2019-12-26 14:59:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000275393" "C17orf89"
"0000275394" "C17orf89"
"0000275395" "C17orf89"
## 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 = 11
"{{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}}"
"0000308436" "0" "30" "17" "79219954" "79219954" "subst" "2.86798E-5" "01943" "SLC38A10_000001" "g.79219954G>A" "" "" "" "SLC38A10(NM_001037984.3):c.2762C>T (p.T921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81246154G>A" "" "likely benign" ""
"0000629395" "1" "90" "17" "79213208" "79213215" "dup" "0" "00006" "C17orf89_000001" "g.79213208_79213215dup" "" "{PMID:Alston 2020:31866046}, {DOI:Schilit Alston:10.1016/j.ajhg.2019.12.001}" "" "" "" "Germline" "" "" "0" "" "" "g.81239408_81239415dup" "" "pathogenic (recessive)" ""
"0000629396" "1" "90" "17" "79213749" "79213749" "subst" "0" "00006" "C17orf89_000002" "g.79213749C>T" "" "{PMID:Alston 2020:31866046}, {DOI:Schilit Alston:10.1016/j.ajhg.2019.12.001}" "" "" "" "Germline" "" "" "0" "" "" "g.81239949C>T" "" "pathogenic (recessive)" ""
"0000629397" "3" "90" "17" "79213448" "79213448" "subst" "0" "00006" "C17orf89_000004" "g.79213448C>G" "" "{PMID:Alston 2020:31866046}, {DOI:Schilit Alston:10.1016/j.ajhg.2019.12.001}" "" "" "" "Germline" "" "" "0" "" "" "g.81239648C>G" "" "pathogenic (recessive)" ""
"0000629398" "2" "90" "17" "79213749" "79213749" "subst" "0" "00006" "C17orf89_000002" "g.79213749C>T" "" "{PMID:Alston 2020:31866046}, {DOI:Schilit Alston:10.1016/j.ajhg.2019.12.001}" "" "" "" "Germline" "" "" "0" "" "" "g.81239949C>T" "" "pathogenic (recessive)" ""
"0000629399" "0" "90" "17" "79213164" "79213164" "subst" "0" "00006" "C17orf89_000003" "g.79213164A>G" "" "{PMID:Alston 2020:31866046}, {DOI:Schilit Alston:10.1016/j.ajhg.2019.12.001}" "" "" "" "Germline" "" "" "0" "" "" "g.81239364A>G" "" "pathogenic (recessive)" ""
"0001003828" "0" "30" "17" "79214927" "79214927" "subst" "0.00662745" "01804" "C17orf89_000005" "g.79214927C>T" "" "" "" "C17ORF89(NM_001086521.1):c.*111C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003829" "0" "30" "17" "79219937" "79219937" "subst" "0.00294173" "01804" "C17orf89_000006" "g.79219937T>C" "" "" "" "SLC38A10(NM_001037984.1):c.2779A>G (p.(Lys927Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001042272" "0" "50" "17" "79213420" "79213420" "subst" "0.000124031" "01804" "C17orf89_000007" "g.79213420T>C" "" "" "" "NDUFAF8(NM_001086521.2):c.137T>C (p.(Leu46Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001056233" "0" "50" "17" "79213191" "79213191" "subst" "0" "01804" "C17orf89_000008" "g.79213191C>G" "" "" "" "NDUFAF8(NM_001086521.2):c.28C>G (p.(Arg10Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001056234" "0" "50" "17" "79214895" "79214895" "subst" "0.000127964" "01804" "C17orf89_000009" "g.79214895G>A" "" "" "" "NDUFAF8(NM_001353402.1):c.308G>A (p.(Arg103Gln))" "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 C17orf89
## Count = 11
"{{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}}"
"0000308436" "00004108" "30" "5363" "0" "5363" "0" "c.*5138G>A" "r.(=)" "p.(=)" ""
"0000629395" "00004108" "90" "45" "0" "52" "0" "c.45_52dup" "r.(?)" "p.(Phe18Serfs*32)" ""
"0000629396" "00004108" "90" "195" "271" "195" "271" "c.195+271C>T" "r.0" "p.0" ""
"0000629397" "00004108" "90" "165" "0" "165" "0" "c.165C>G" "r.(?)" "p.(Phe55Leu)" ""
"0000629398" "00004108" "90" "195" "271" "195" "271" "c.195+271C>T" "r.0" "p.0" ""
"0000629399" "00004108" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" ""
"0001003828" "00004108" "30" "336" "0" "336" "0" "c.*111C>T" "r.(=)" "p.(=)" ""
"0001003829" "00004108" "30" "5346" "0" "5346" "0" "c.*5121T>C" "r.(=)" "p.(=)" ""
"0001042272" "00004108" "50" "137" "0" "137" "0" "c.137T>C" "r.(?)" "p.(Leu46Pro)" ""
"0001056233" "00004108" "50" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(Arg10Gly)" ""
"0001056234" "00004108" "50" "304" "0" "304" "0" "c.*79G>A" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{variantid}}"
"0000275393" "0000629395"
"0000275393" "0000629398"
"0000275394" "0000629396"
"0000275394" "0000629399"
"0000275395" "0000629397"