### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C10orf2) # 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}}" "C10orf2" "chromosome 10 open reading frame 2" "10" "q24" "unknown" "NC_000010.10" "UD_132084441595" "" "https://www.LOVD.nl/C10orf2" "Finnish Disease Database (FinDis) " "1" "1160" "56652" "606075" "1" "1" "1" "1" "NOTE: gene name changed from C10orf2 to TWNK\r\nSo far mainly variants associated with MTDPS7 (IOSCA) are shown.\r\nWe gratefully acknowledge Anne Polvi and Juha Muilu for their help with establishing this database as well as acting as a curator until end 2015. In addition we thank Tuula Lönnqvist for database curation until end 2019.\r\nEstablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/C10orf2_codingDNA.html" "1" "" "NOTE: gene name changed from C10orf2 to TWNK" "-1" "" "-1" "00008" "2012-08-30 00:00:00" "00006" "2020-08-13 15:15:39" "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}}" "00000279" "C10orf2" "transcript variant 1" "002" "NM_021830.4" "" "NP_068602.2" "" "" "" "-675" "2946" "2055" "102747293" "102754158" "00008" "2012-08-30 16:53:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "00040" "MTDPS7" "mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7)" "AR" "271245" "" "" "" "00008" "2012-08-30 16:45:18" "00006" "2021-12-10 21:51:32" "00041" "PEOA3" "ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3)" "AD" "609286" "" "" "" "00008" "2012-08-30 16:46:02" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" "03386" "SPAX4" "ataxia, spastic, type 4, autosomal dominant (SPAX-4)" "AR" "613672" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04386" "PRLTS5" "Perrault syndrome, type 5 (PRLTS5)" "AR" "616138" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05146" "KSS" "Kearns-Sayre syndrome (KSS)" "" "530000" "" "" "" "00006" "2016-03-27 15:29:38" "" "" "05147" "CPEO" "ophthalmoplegia, external, progressive, chronic (CPEO)" "" "" "" "" "" "00006" "2016-03-27 15:38:04" "" "" "05374" "MTDPS" "mitochondrial DNA depletion syndrome (MTDPS)" "" "" "" "" "" "00006" "2018-01-01 15:41:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "C10orf2" "00040" "C10orf2" "00041" "C10orf2" "00139" "C10orf2" "04386" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00003014" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "Pat6mov" "00037297" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037298" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037299" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037300" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00054869" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "Pat7" "00056387" "" "" "" "1" "" "01491" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Norwegian" "" "00056392" "" "" "" "1" "" "00006" "{PMID:Nikali 2005:16135556}" "712 Finnish controls" "" "" "Finland" "" "0" "" "" "" "" "00060278" "" "" "" "1" "" "01574" "Submitted for publication" "" "F" "no" "United States" "" "0" "" "" "" "" "00060281" "" "" "" "1" "" "00006" "{PMID:Hartley 2012:22928142}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" ">05y" "0" "" "" "English" "" "00060282" "" "" "" "4" "" "00006" "{PMID:Dündar 2012:22353293}" "6-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Turkey" "" "0" "" "" "" "" "00060283" "" "" "" "1" "" "00006" "{PMID:Nikali 2005:16135556}" "712 controls" "F;M" "" "Finland" "" "0" "" "" "" "" "00060284" "" "" "" "1" "" "00006" "{PMID:Nikali 2005:16135556}" "1 family, unaffected heterozygous carrier parents/sibs" "" "" "Finland" "" "0" "" "" "" "" "00060285" "" "" "" "20" "" "00006" "{PMID:Nikali 2005:16135556}" "14 Finnish families, 20 patients, shared haplotype, unaffected heterozygous carriers" "" "" "Finland" "" "0" "" "" "" "" "00060286" "" "" "" "2" "" "00006" "{PMID:Faruq 2013:24102492}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "India" "" "0" "" "" "" "" "00087123" "" "" "" "2" "" "00006" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "3-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "Morocco" "" "00276000" "" "" "" "1" "" "03560" "" "" "-" "?" "Spain" "" "0" "" "" "" "" "00276002" "" "" "" "1" "" "03560" "" "" "-" "?" "Spain" "" "0" "" "" "" "" "00289290" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00289973" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289974" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289975" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289976" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307456" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam30PatLP115" "00380802" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00387764" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8401811" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00003014" "00040" "00037297" "05147" "00037298" "05146" "00037299" "05147" "00054869" "03386" "00056387" "04386" "00056392" "00000" "00060278" "00040" "00060281" "00040" "00060282" "00040" "00060283" "00000" "00060284" "00040" "00060285" "00040" "00060286" "00040" "00087123" "00616" "00276000" "00041" "00276002" "00041" "00289290" "00198" "00289973" "00198" "00289974" "00198" "00289975" "00198" "00289976" "00198" "00307456" "05374" "00380802" "00041" "00387764" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00040, 00041, 00139, 00198, 00616, 03386, 04386, 05146, 05147, 05374 ## Count = 17 "{{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}}" "0000001865" "00040" "00003014" "00130" "Isolated (sporadic)" "" "Complicated Ataxie" "" "" "" "" "" "" "" "" "" "" "" "0000041533" "03386" "00054869" "01479" "Familial, autosomal recessive" "" "ataxia, ovarian dysgenesis, deafness, neuropathy, ID" "03y" "" "" "" "" "" "" "" "MTDPS7" "cerebellar ataxia" "" "0000043006" "04386" "00056387" "01491" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000046776" "05146" "00037298" "01164" "Unknown" "" "Kearns-Sayre-Syndrom/CPEO" "" "" "" "" "" "" "" "" "" "" "" "0000046777" "05147" "00037297" "01164" "Unknown" "" "CPEO" "" "" "" "" "" "" "" "" "" "" "" "0000046778" "05147" "00037299" "01164" "Unknown" "" "CPEO" "" "" "" "" "" "" "" "" "" "" "" "0000046779" "00040" "00060278" "01574" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046780" "00040" "00060281" "00006" "Familial, autosomal recessive" "" "see paper; ..., infantile-onset\r\nspinocerebellar ataxia (IOSCA)" "00y08m" "" "delayed gross motor milestones" "" "" "" "" "" "" "" "" "0000046781" "00040" "00060282" "00006" "Familial, autosomal recessive" "" "see paper; ..., infantile onset spinocerebellar ataxia (IOSCA" "" "" "" "" "" "" "" "" "" "" "" "0000046782" "00040" "00060284" "00006" "Familial, autosomal recessive" "" "infantile onset spinocerebellar ataxia (IOSCA)" "" "" "" "" "" "" "" "" "" "" "" "0000046783" "00040" "00060285" "00006" "Familial, autosomal recessive" "" "infantile onset spinocerebellar ataxia (IOSCA)" "" "" "" "" "" "" "" "" "" "" "" "0000046784" "00040" "00060286" "00006" "Familial, autosomal recessive" "" "infantile onset spinocerebellar ataxia (IOSCA); see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000066704" "00616" "00087123" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe deafness, amenorrhea I, ataxia, sensory-motor\r\npolyneuropathy, arachnodactyly" "<03y" "" "" "" "" "" "" "" "" "" "" "0000222921" "00198" "00289290" "01164" "Unknown" "" "Arrhythmia (HP:0011675); Bilateral ptosis (HP:0001488); Diplopia (HP:0000651)" "" "" "" "" "" "" "" "" "" "" "" "0000233170" "05374" "00307456" "00006" "Unknown" "1y" "intestinal failure ass. liver disease, mild retardation" "" "" "" "" "" "" "" "" "" "mitochondrial DNA depletion syndromes" "" "0000274655" "00041" "00380802" "00000" "Familial" "" "ID; muscle weakness; seizures; decreased mitochondrial respiratory chain complex activity (Neurological)" "" "" "" "" "" "" "" "" "Mitochondrial DNA depletion syndrome type 7" "" "" "0000281332" "00139" "00387764" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002920" "00003014" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000037367" "00037297" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037368" "00037298" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037369" "00037299" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037370" "00037300" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000054821" "00054869" "1" "01479" "01479" "2015-11-30 15:59:35" "" "" "SEQ-NG" "DNA" "" "" "0000056346" "00056387" "1" "01491" "01491" "2015-12-17 12:49:03" "" "" "SEQ-NG" "DNA" "" "" "0000056347" "00056387" "1" "01491" "01491" "2015-12-17 12:50:18" "" "" "SEQ" "DNA" "" "" "0000056352" "00056392" "1" "00006" "00006" "2015-12-18 07:33:37" "" "" "SEQ" "DNA" "" "" "0000060266" "00060278" "1" "01574" "01574" "2016-03-24 22:27:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000060267" "00060278" "1" "01574" "01574" "2016-03-24 22:54:27" "" "" "SEQ" "DNA" "blood" "" "0000060270" "00060281" "1" "00006" "00006" "2016-03-27 16:26:28" "" "" "SEQ" "DNA" "" "" "0000060271" "00060282" "1" "00006" "00006" "2016-03-27 17:02:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060272" "00060283" "1" "00006" "00006" "2016-03-27 17:10:56" "" "" "SEQ" "DNA" "" "" "0000060273" "00060284" "1" "00006" "00006" "2016-03-27 17:20:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000060274" "00060285" "1" "00006" "00006" "2016-03-27 17:44:35" "" "" "SEQ" "DNA" "" "" "0000060275" "00060286" "1" "00006" "00006" "2016-03-27 18:01:50" "" "" "SEQ" "DNA" "" "" "0000087262" "00087123" "1" "00006" "00006" "2016-11-13 15:56:22" "" "" "SEQ" "DNA" "" "" "0000277148" "00276000" "1" "03560" "03560" "2020-01-23 10:23:48" "" "" "SEQ-NG-IT" "DNA" "Muscle" "" "0000277149" "00276002" "1" "03560" "03560" "2020-01-23 10:45:20" "" "" "SEQ-NG-IT" "DNA" "Muscle" "" "0000290460" "00289290" "1" "01164" "01164" "2020-03-02 12:26:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000291141" "00289973" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291142" "00289974" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291143" "00289975" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291144" "00289976" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308595" "00307456" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000382016" "00380802" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000388995" "00387764" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000002920" "C10orf2" "0000037367" "C10orf2" "0000037368" "C10orf2" "0000037369" "C10orf2" "0000037370" "C10orf2" "0000054821" "C10orf2" "0000056347" "C10orf2" "0000056352" "C10orf2" "0000060267" "C10orf2" "0000060270" "C10orf2" "0000060271" "C10orf2" "0000060272" "C10orf2" "0000060273" "C10orf2" "0000060274" "C10orf2" "0000060275" "C10orf2" "0000087262" "C10orf2" "0000277148" "C10orf2" "0000277149" "C10orf2" "0000308595" "C10orf2" "0000388995" "C10orf2" ## 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 = 83 "{{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}}" "0000021294" "3" "70" "10" "102749463" "102749463" "subst" "0" "00130" "C10orf2_000011" "g.102749463G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Germline" "?" "" "0" "" "" "g.100989706G>A" "" "likely pathogenic" "" "0000064492" "1" "90" "10" "102749028" "102749028" "subst" "0" "01164" "C10orf2_000008" "g.102749028G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100989271G>C" "" "pathogenic" "" "0000064493" "1" "50" "10" "102748606" "102748606" "subst" "0.00115727" "01164" "C10orf2_000010" "g.102748606C>T" "up to 0.01" "" "" "" "" "Germline" "" "rs11542130" "0" "" "" "g.100988849C>T" "" "VUS" "" "0000064494" "1" "90" "10" "102749088" "102749088" "subst" "0" "01164" "C10orf2_000009" "g.102749088G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100989331G>A" "" "pathogenic" "" "0000064495" "1" "50" "10" "102753014" "102753014" "subst" "2.03028E-5" "01164" "C10orf2_000007" "g.102753014G>A" "" "" "" "" "" "Germline" "" "rs141315771" "0" "" "" "g.100993257G>A" "" "VUS" "" "0000084837" "3" "50" "10" "102749463" "102749463" "subst" "1.21819E-5" "01479" "C10orf2_000014" "g.102749463G>C" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.100989706G>C" "" "VUS" "" "0000086585" "20" "70" "10" "102748935" "102748935" "subst" "1.2189E-5" "01491" "C10orf2_000012" "g.102748935G>A" "" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "" "" "" "Germline" "" "" "0" "" "" "g.100989178G>A" "" "likely pathogenic" "" "0000086586" "11" "70" "10" "102749163" "102749163" "subst" "4.06197E-6" "01491" "C10orf2_000013" "g.102749163A>G" "" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "" "" "" "Germline" "" "" "0" "" "" "g.100989406A>G" "" "likely pathogenic" "" "0000086591" "1" "99" "10" "102750231" "102750231" "subst" "0.000259882" "00006" "C10orf2_000001" "g.102750231A>G" "8/712 controls (FIN)" "{PMID:Nikali 2005:16135556}" "" "" "8/712 controls (FIN), all heterozygous" "Germline" "" "rs80356540" "0" "" "" "g.100990474A>G" "" "pathogenic" "" "0000091271" "11" "70" "10" "102748300" "102748300" "del" "0" "01574" "C10orf2_000015" "g.102748300del" "" "" "" "333delT" "" "Germline" "yes" "" "0" "" "" "g.100988543del" "" "likely pathogenic" "" "0000091272" "21" "70" "10" "102748871" "102748871" "subst" "1.22074E-5" "01574" "C10orf2_000016" "g.102748871C>T" "" "" "" "" "1/60628 individuals in ExAC database" "Germline" "yes" "" "0" "" "" "g.100989114C>T" "" "likely pathogenic" "" "0000091287" "1" "77" "10" "102748214" "102748214" "subst" "4.06204E-6" "00015" "C10orf2_000004" "g.102748214C>T" "" "{PMID:Hartley 2012:22928142}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100988457C>T" "" "likely pathogenic" "" "0000091288" "2" "77" "10" "102749544" "102749544" "subst" "8.1211E-6" "00015" "C10orf2_000005" "g.102749544C>T" "" "{PMID:Hartley 2012:22928142}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100989787C>T" "" "likely pathogenic" "" "0000091289" "0" "77" "10" "102749523" "102749523" "subst" "0" "00015" "C10orf2_000003" "g.102749523C>G" "" "{PMID:Dündar 2012:22353293}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100989766C>G" "" "likely pathogenic" "" "0000091290" "1" "99" "10" "102750231" "102750231" "subst" "0.000259882" "00006" "C10orf2_000001" "g.102750231A>G" "8/712 controls (het)" "{PMID:Nikali 2005:16135556}" "" "1708A>G (Y508C)" "not found in 95 non-Finnish controls" "Germline" "-" "rs80356540" "0" "" "" "g.100990474A>G" "" "pathogenic" "" "0000091291" "11" "99" "10" "102749444" "102749444" "subst" "0" "00015" "C10orf2_000002" "g.102749444C>T" "" "{PMID:Nikali 2005:16135556}" "" "1472C>T (silent)" "functional studies show decreased transcription (0.28 vs. 0.72); 1 Finnish family (com-het)" "Germline" "yes" "rs80356541" "0" "" "" "g.100989687C>T" "" "pathogenic" "" "0000091292" "21" "99" "10" "102750231" "102750231" "subst" "0.000259882" "00015" "C10orf2_000001" "g.102750231A>G" "" "{PMID:Nikali 2005:16135556}" "" "1708A>G (Y508C)" "Finnish major IOSCA variant" "Germline" "yes" "rs80356540" "0" "" "" "g.100990474A>G" "" "pathogenic" "" "0000091293" "3" "99" "10" "102750231" "102750231" "subst" "0.000259882" "00015" "C10orf2_000001" "g.102750231A>G" "" "{PMID:Nikali 2005:16135556}" "" "1708A>G (Y508C)" "Finnish major IOSCA variant, 15 Finnish families (14 hom, 1 com-het)" "Germline" "yes" "rs80356540" "0" "" "" "g.100990474A>G" "" "pathogenic" "" "0000091294" "3" "77" "10" "102748676" "102748676" "subst" "0" "00117" "C10orf2_000006" "g.102748676A>G" "" "{PMID:Faruq 2013:24102492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100988919A>G" "" "likely pathogenic" "" "0000140430" "3" "90" "10" "102748760" "102748760" "subst" "0" "00006" "C10orf2_000017" "g.102748760C>T" "" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100989003C>T" "" "pathogenic" "" "0000266347" "0" "30" "10" "102752964" "102752964" "subst" "4.06101E-6" "02325" "C10orf2_000024" "g.102752964C>T" "" "" "" "TWNK(NM_021830.5):c.1752C>T (p.D584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100993207C>T" "" "likely benign" "" "0000269419" "0" "70" "10" "102749139" "102749139" "subst" "6.09355E-5" "02326" "C10orf2_000020" "g.102749139G>A" "" "" "" "TWNK(NM_021830.5):c.1172G>A (p.R391H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100989382G>A" "" "likely pathogenic" "" "0000269420" "0" "30" "10" "102748136" "102748136" "subst" "3.2487E-5" "02326" "C10orf2_000018" "g.102748136G>A" "" "" "" "C10orf2(NM_001163812.1):c.169G>A (p.A57T), TWNK(NM_001163812.2):c.169G>A (p.A57T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100988379G>A" "" "likely benign" "" "0000272220" "0" "30" "10" "102750244" "102750244" "subst" "4.06068E-6" "01943" "C10orf2_000022" "g.102750244T>C" "" "" "" "C10orf2(NM_001163812.1):c.1536T>C (p.H512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100990487T>C" "" "likely benign" "" "0000272221" "0" "30" "10" "102750689" "102750689" "subst" "8.1211E-6" "01943" "C10orf2_000023" "g.102750689T>C" "" "" "" "C10orf2(NM_001163812.1):c.1656T>C (p.H552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100990932T>C" "" "likely benign" "" "0000272222" "0" "30" "10" "102753066" "102753066" "subst" "2.84239E-5" "01943" "C10orf2_000025" "g.102753066G>A" "" "" "" "C10orf2(NM_021830.4):c.1854G>A (p.P618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100993309G>A" "" "likely benign" "" "0000272223" "0" "30" "10" "102753192" "102753192" "subst" "2.43778E-5" "01943" "C10orf2_000027" "g.102753192G>A" "" "" "" "C10orf2(NM_021830.4):c.1980G>A (p.T660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100993435G>A" "" "likely benign" "" "0000272224" "0" "30" "10" "102748598" "102748598" "subst" "4.06062E-6" "01943" "C10orf2_000019" "g.102748598C>G" "" "" "" "C10orf2(NM_001163812.1):c.631C>G (p.P211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100988841C>G" "" "likely benign" "" "0000307886" "0" "30" "10" "102743776" "102743776" "subst" "0" "01943" "MRPL43_000002" "g.102743776G>A" "" "" "" "SEMA4G(NM_017893.3):c.2420G>A (p.S807N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100984019G>A" "" "likely benign" "" "0000321738" "0" "50" "10" "102753137" "102753137" "subst" "2.43635E-5" "01804" "C10orf2_000026" "g.102753137A>G" "" "" "" "C10orf2(NM_001163812.1):c.*220A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100993380A>G" "" "VUS" "" "0000348525" "0" "50" "10" "102753065" "102753065" "subst" "4.06055E-6" "02327" "C10orf2_000031" "g.102753065C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100993308C>T" "" "VUS" "" "0000350512" "0" "10" "10" "102749069" "102749069" "subst" "0.0218886" "02327" "C10orf2_000028" "g.102749069G>A" "" "" "" "TWNK(NM_021830.5):c.1102G>A (p.(Val368Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100989312G>A" "" "benign" "" "0000538883" "0" "50" "10" "102746925" "102746925" "subst" "4.06408E-6" "01804" "C10orf2_000033" "g.102746925A>G" "" "" "" "MRPL43(NM_032112.2):c.160T>C (p.(Phe54Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100987168A>G" "" "VUS" "" "0000538884" "0" "30" "10" "102748017" "102748017" "subst" "4.0663E-6" "01804" "C10orf2_000034" "g.102748017T>C" "" "" "" "C10orf2(NM_001163812.1):c.50T>C (p.(Leu17Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988260T>C" "" "likely benign" "" "0000538885" "0" "50" "10" "102748134" "102748134" "subst" "0" "01943" "C10orf2_000035" "g.102748134C>G" "" "" "" "C10orf2(NM_001163812.1):c.167C>G (p.T56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988377C>G" "" "VUS" "" "0000538886" "0" "30" "10" "102748136" "102748136" "subst" "3.2487E-5" "01943" "C10orf2_000018" "g.102748136G>A" "" "" "" "C10orf2(NM_001163812.1):c.169G>A (p.A57T), TWNK(NM_001163812.2):c.169G>A (p.A57T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988379G>A" "" "likely benign" "" "0000538887" "0" "30" "10" "102748269" "102748269" "subst" "0" "01804" "C10orf2_000036" "g.102748269G>T" "" "" "" "C10orf2(NM_001163812.1):c.302G>T (p.(Ser101Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988512G>T" "" "likely benign" "" "0000538888" "0" "30" "10" "102748429" "102748429" "subst" "0" "01943" "C10orf2_000037" "g.102748429C>T" "" "" "" "C10orf2(NM_001163812.1):c.462C>T (p.V154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988672C>T" "" "likely benign" "" "0000538889" "0" "30" "10" "102748606" "102748606" "subst" "0.00115727" "01943" "C10orf2_000010" "g.102748606C>T" "" "" "" "C10orf2(NM_001163812.1):c.639C>T (p.G213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988849C>T" "" "likely benign" "" "0000538890" "0" "50" "10" "102748904" "102748904" "subst" "1.21978E-5" "01943" "C10orf2_000038" "g.102748904C>T" "" "" "" "C10orf2(NM_001163812.1):c.937C>T (p.R313W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989147C>T" "" "VUS" "" "0000538891" "0" "30" "10" "102749009" "102749009" "subst" "0.000138115" "01943" "C10orf2_000039" "g.102749009G>A" "" "" "" "C10orf2(NM_001163812.1):c.1042G>A (p.G348R, p.(Gly348Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989252G>A" "" "likely benign" "" "0000538892" "0" "30" "10" "102749009" "102749009" "subst" "0.000138115" "01804" "C10orf2_000039" "g.102749009G>A" "" "" "" "C10orf2(NM_001163812.1):c.1042G>A (p.G348R, p.(Gly348Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989252G>A" "" "likely benign" "" "0000538893" "0" "50" "10" "102749084" "102749084" "subst" "0" "02327" "C10orf2_000040" "g.102749084C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989327C>G" "" "VUS" "" "0000538895" "0" "50" "10" "102749091" "102749091" "subst" "0" "02327" "C10orf2_000042" "g.102749091A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989334A>T" "" "VUS" "" "0000538896" "0" "50" "10" "102749620" "102749620" "subst" "0" "01804" "C10orf2_000043" "g.102749620T>C" "" "" "" "C10orf2(NM_001163812.1):c.1463T>C (p.(Phe488Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989863T>C" "" "VUS" "" "0000538897" "0" "30" "10" "102750235" "102750235" "subst" "0.000609097" "01943" "C10orf2_000044" "g.102750235C>T" "" "" "" "C10orf2(NM_001163812.1):c.1527C>T (p.D509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100990478C>T" "" "likely benign" "" "0000538898" "0" "30" "10" "102750719" "102750719" "subst" "4.06058E-6" "01943" "C10orf2_000045" "g.102750719G>A" "" "" "" "C10orf2(NM_001163812.1):c.1686G>A (p.E562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100990962G>A" "" "likely benign" "" "0000612228" "0" "30" "10" "102748140" "102748140" "subst" "0" "01804" "C10orf2_000046" "g.102748140C>T" "" "" "" "C10orf2(NM_001163812.1):c.173C>T (p.(Thr58Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988383C>T" "" "likely benign" "" "0000612229" "0" "50" "10" "102749463" "102749463" "subst" "1.21819E-5" "01943" "C10orf2_000014" "g.102749463G>C" "" "" "" "C10orf2(NM_001163812.1):c.1306G>C (p.G436R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989706G>C" "" "VUS" "" "0000612230" "0" "50" "10" "102749506" "102749506" "subst" "0" "02325" "C10orf2_000047" "g.102749506G>A" "" "" "" "TWNK(NM_001163812.2):c.1349G>A (p.R450K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100989749G>A" "" "VUS" "" "0000612231" "0" "30" "10" "102750193" "102750193" "subst" "0.000361401" "02325" "C10orf2_000048" "g.102750193G>A" "" "" "" "TWNK(NM_001163812.2):c.1485G>A (p.R495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100990436G>A" "" "likely benign" "" "0000622311" "0" "30" "10" "102750650" "102750650" "subst" "3.6545E-5" "01943" "C10orf2_000049" "g.102750650C>T" "" "" "" "TWNK(NM_001163812.1):c.1617C>T (p.I539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100990893C>T" "" "likely benign" "" "0000631878" "0" "50" "10" "102749568" "102749568" "subst" "0" "03560" "C10orf2_000050" "g.102749568T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100989811T>G" "" "likely pathogenic (dominant)" "" "0000631879" "0" "50" "10" "102749518" "102749518" "subst" "0" "03560" "C10orf2_000051" "g.102749518T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100989761T>G" "" "likely pathogenic (dominant)" "" "0000647128" "0" "70" "10" "102749536" "102749536" "subst" "0" "01164" "C10orf2_000052" "g.102749536C>G" "" "" "" "" "mother also affected, no segregation data; Fratter et al. 2010. Neurology 74: 1619-26" "Germline" "" "" "0" "" "" "g.100989779C>G" "" "likely pathogenic" "ACMG" "0000647830" "1" "10" "10" "102749069" "102749069" "subst" "0.0218886" "03575" "C10orf2_000028" "g.102749069G>A" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs17113613}" "Germline" "" "rs17113613" "0" "" "" "g.100989312G>A" "" "benign" "" "0000647831" "1" "30" "10" "102749139" "102749139" "subst" "6.09355E-5" "03575" "C10orf2_000020" "g.102749139G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs556445621}" "Germline" "" "rs556445621" "0" "" "" "g.100989382G>A" "" "likely benign" "" "0000647832" "1" "50" "10" "102749163" "102749163" "subst" "4.06197E-6" "03575" "C10orf2_000013" "g.102749163A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs863223921}" "Germline" "" "rs863223921" "0" "" "" "g.100989406A>G" "" "VUS" "" "0000647833" "1" "30" "10" "102753471" "102753471" "subst" "0" "03575" "C10orf2_000053" "g.102753471G>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs61871507}" "Germline" "" "rs61871507" "0" "" "" "g.100993714G>A" "" "likely benign" "" "0000656403" "0" "50" "10" "102748203" "102748203" "subst" "0" "01943" "C10orf2_000054" "g.102748203G>A" "" "" "" "TWNK(NM_001163812.1):c.236G>A (p.R79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100988446G>A" "" "VUS" "" "0000678752" "0" "30" "10" "102748921" "102748921" "subst" "4.06309E-5" "01943" "C10orf2_000055" "g.102748921C>G" "" "" "" "TWNK(NM_001163812.1):c.954C>G (p.A318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682996" "3" "50" "10" "102749157" "102749157" "subst" "8.12394E-5" "00006" "C10orf2_000056" "g.102749157A>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000690632" "0" "30" "10" "102748667" "102748667" "subst" "8.12163E-6" "01943" "C10orf2_000057" "g.102748667G>A" "" "" "" "TWNK(NM_001163812.1):c.700G>A (p.E234K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722639" "0" "30" "10" "102748205" "102748205" "subst" "3.65565E-5" "01943" "C10orf2_000058" "g.102748205G>A" "" "" "" "TWNK(NM_001163812.1):c.238G>A (p.A80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722640" "0" "50" "10" "102748905" "102748905" "subst" "0" "02327" "C10orf2_000059" "g.102748905G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722641" "0" "50" "10" "102753029" "102753029" "subst" "1.21817E-5" "01943" "C10orf2_000060" "g.102753029C>G" "" "" "" "TWNK(NM_021830.4):c.1817C>G (p.S606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795650" "3" "70" "10" "102748970" "102748970" "subst" "0" "00000" "C10orf2_000061" "g.102748970C>A" "" "{PMID:Nair 2018:30293248}" "" "NM_021830.4:c.1003C>A; p.Pro335Thr" "" "Unknown" "?" "" "0" "" "" "g.100989213C>A" "" "likely pathogenic" "" "0000804267" "0" "30" "10" "102753170" "102753170" "subst" "2.84289E-5" "01943" "C10orf2_000062" "g.102753170C>T" "" "" "" "TWNK(NM_021830.4):c.1958C>T (p.S653F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817788" "3" "50" "10" "102748841" "102748841" "subst" "0" "00006" "C10orf2_000063" "g.102748841C>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100989084C>A" "" "VUS" "ACMG" "0000861791" "0" "30" "10" "102748351" "102748351" "subst" "0.000114024" "01943" "C10orf2_000064" "g.102748351C>T" "" "" "" "TWNK(NM_001163812.1):c.384C>T (p.S128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861792" "0" "30" "10" "102749008" "102749008" "subst" "8.1244E-6" "01943" "C10orf2_000065" "g.102749008C>T" "" "" "" "TWNK(NM_001163812.1):c.1041C>T (p.N347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888962" "0" "50" "10" "102749148" "102749148" "subst" "8.12447E-6" "02325" "C10orf2_000066" "g.102749148G>A" "" "" "" "TWNK(NM_021830.5):c.1181G>A (p.R394H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913198" "0" "50" "10" "102748371" "102748371" "subst" "4.07282E-6" "02327" "C10orf2_000067" "g.102748371G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913199" "0" "10" "10" "102750621" "102750621" "subst" "0.272662" "02325" "C10orf2_000068" "g.102750621C>T" "" "" "" "TWNK(NM_021830.5):c.1593-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913200" "0" "10" "10" "102750623" "102750623" "subst" "0.27267" "02325" "C10orf2_000069" "g.102750623T>C" "" "" "" "TWNK(NM_021830.5):c.1593-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913201" "0" "50" "10" "102750642" "102750642" "subst" "0.000154301" "02325" "C10orf2_000070" "g.102750642T>C" "" "" "" "TWNK(NM_021830.5):c.1609T>C (p.Y537H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913202" "0" "10" "10" "102750783" "102750783" "subst" "0.272708" "02325" "C10orf2_000071" "g.102750783C>A" "" "" "" "TWNK(NM_021830.5):c.1734+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925101" "0" "70" "10" "102752966" "102752966" "subst" "8.12156E-6" "02325" "C10orf2_000073" "g.102752966A>G" "" "" "" "C10ORF2(NM_021830.4):c.1754A>G (p.(Asn585Ser)), TWNK(NM_021830.5):c.1754A>G (p.N585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000959761" "0" "50" "10" "102749559" "102749559" "subst" "0" "03779" "C10orf2_000074" "g.102749559C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000978859" "0" "30" "10" "102749069" "102749069" "subst" "0.0218886" "01804" "C10orf2_000028" "g.102749069G>A" "" "" "" "TWNK(NM_021830.5):c.1102G>A (p.(Val368Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998053" "0" "70" "10" "102749087" "102749087" "subst" "4.0626E-6" "02329" "C10orf2_000041" "g.102749087C>T" "" "" "" "TWNK(NM_021830.5):c.1120C>T (p.R374W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998054" "0" "70" "10" "102752966" "102752966" "subst" "8.12156E-6" "01804" "C10orf2_000073" "g.102752966A>G" "" "" "" "C10ORF2(NM_021830.4):c.1754A>G (p.(Asn585Ser)), TWNK(NM_021830.5):c.1754A>G (p.N585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025702" "0" "50" "10" "102750730" "102750730" "subst" "0.000272057" "02325" "C10orf2_000076" "g.102750730A>G" "" "" "" "TWNK(NM_021830.5):c.1697A>G (p.K566R)" "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 C10orf2 ## Count = 83 "{{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}}" "0000021294" "00000279" "70" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Gly436Arg)" "2" "0000064492" "00000279" "90" "1061" "0" "1061" "0" "c.1061G>C" "r.(?)" "p.(Arg354Pro)" "1" "0000064493" "00000279" "50" "639" "0" "639" "0" "c.639C>T" "r.(=)" "p.(=)" "1" "0000064494" "00000279" "90" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374Gln)" "1" "0000064495" "00000279" "50" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "5" "0000084837" "00000279" "50" "1306" "0" "1306" "0" "c.1306G>C" "r.(?)" "p.(Gly436Arg)" "2" "0000086585" "00000279" "70" "968" "0" "968" "0" "c.968G>A" "r.(968g>a)" "p.(Arg323Gln)" "1" "0000086586" "00000279" "70" "1196" "0" "1196" "0" "c.1196A>G" "r.(1196a>g)" "p.(Asn399Ser)" "1" "0000086591" "00000279" "99" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(Tyr508Cys)" "3" "0000091271" "00000279" "70" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Leu112Serfs*3)" "1" "0000091272" "00000279" "70" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Trp)" "1" "0000091287" "00000279" "77" "247" "0" "247" "0" "c.247C>T" "r.(247c>u)" "p.(Pro83Ser)" "1" "0000091288" "00000279" "77" "1387" "0" "1387" "0" "c.1387C>T" "r.(1387c>u)" "p.(Arg463Trp)" "2" "0000091289" "00000279" "77" "1366" "0" "1366" "0" "c.1366C>G" "r.(1366c>g)" "p.(Leu456Val)" "2" "0000091290" "00000279" "99" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(Tyr508Cys)" "3" "0000091291" "00000279" "77" "1287" "0" "1287" "0" "c.1287C>T" "r.1287c>u" "p.=" "2" "0000091292" "00000279" "99" "1523" "0" "1523" "0" "c.1523A>G" "r.1523a>g" "p.Tyr508Cys" "3" "0000091293" "00000279" "99" "1523" "0" "1523" "0" "c.1523A>G" "r.(1523a>g)" "p.(Tyr508Cys)" "3" "0000091294" "00000279" "77" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Thr237Ala)" "1" "0000140430" "00000279" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "1" "0000266347" "00000279" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(Asp584=)" "" "0000269419" "00000279" "70" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "0000269420" "00000279" "30" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Ala57Thr)" "" "0000272220" "00000279" "30" "1536" "0" "1536" "0" "c.1536T>C" "r.(?)" "p.(His512=)" "" "0000272221" "00000279" "30" "1656" "0" "1656" "0" "c.1656T>C" "r.(?)" "p.(His552=)" "" "0000272222" "00000279" "30" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(Pro618=)" "" "0000272223" "00000279" "30" "1980" "0" "1980" "0" "c.1980G>A" "r.(?)" "p.(Thr660=)" "" "0000272224" "00000279" "30" "631" "0" "631" "0" "c.631C>G" "r.(?)" "p.(Pro211Ala)" "" "0000307886" "00000279" "30" "-4192" "0" "-4192" "0" "c.-4192G>A" "r.(?)" "p.(=)" "" "0000321738" "00000279" "50" "1925" "0" "1925" "0" "c.1925A>G" "r.(?)" "p.(Lys642Arg)" "" "0000348525" "00000279" "50" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Pro618Leu)" "" "0000350512" "00000279" "10" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000538883" "00000279" "50" "-1043" "0" "-1043" "0" "c.-1043A>G" "r.(?)" "p.(=)" "" "0000538884" "00000279" "30" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "" "0000538885" "00000279" "50" "167" "0" "167" "0" "c.167C>G" "r.(?)" "p.(Thr56Ser)" "" "0000538886" "00000279" "30" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Ala57Thr)" "" "0000538887" "00000279" "30" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Ser101Ile)" "" "0000538888" "00000279" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Val154=)" "" "0000538889" "00000279" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Gly213=)" "" "0000538890" "00000279" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Trp)" "" "0000538891" "00000279" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Gly348Arg)" "" "0000538892" "00000279" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Gly348Arg)" "" "0000538893" "00000279" "50" "1117" "0" "1117" "0" "c.1117C>G" "r.(?)" "p.(Leu373Val)" "" "0000538895" "00000279" "50" "1124" "0" "1124" "0" "c.1124A>T" "r.(?)" "p.(Glu375Val)" "" "0000538896" "00000279" "50" "1463" "0" "1463" "0" "c.1463T>C" "r.(?)" "p.(Phe488Ser)" "" "0000538897" "00000279" "30" "1527" "0" "1527" "0" "c.1527C>T" "r.(?)" "p.(Asp509=)" "" "0000538898" "00000279" "30" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Glu562=)" "" "0000612228" "00000279" "30" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Ile)" "" "0000612229" "00000279" "50" "1306" "0" "1306" "0" "c.1306G>C" "r.(?)" "p.(Gly436Arg)" "" "0000612230" "00000279" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450Lys)" "" "0000612231" "00000279" "30" "1485" "0" "1485" "0" "c.1485G>A" "r.(?)" "p.(Arg495=)" "" "0000622311" "00000279" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Ile539=)" "" "0000631878" "00000279" "50" "1411" "0" "1411" "0" "c.1411T>G" "r.(?)" "p.(Tyr471Asp)" "2" "0000631879" "00000279" "50" "1361" "0" "1361" "0" "c.1361T>G" "r.(?)" "p.(Val454Gly)" "2" "0000647128" "00000279" "70" "1379" "0" "1379" "0" "c.1379C>G" "r.(?)" "p.(Ala460Gly)" "" "0000647830" "00000279" "10" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000647831" "00000279" "30" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "0000647832" "00000279" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Asn399Ser)" "" "0000647833" "00000279" "30" "2259" "0" "2259" "0" "c.*204G>A" "r.(=)" "p.(=)" "" "0000656403" "00000279" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000678752" "00000279" "30" "954" "0" "954" "0" "c.954C>G" "r.(?)" "p.(Ala318=)" "" "0000682996" "00000279" "50" "1190" "0" "1190" "0" "c.1190A>G" "r.(?)" "p.(Asp397Gly)" "" "0000690632" "00000279" "30" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Glu234Lys)" "" "0000722639" "00000279" "30" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Ala80Thr)" "" "0000722640" "00000279" "50" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313Gln)" "" "0000722641" "00000279" "50" "1817" "0" "1817" "0" "c.1817C>G" "r.(?)" "p.(Ser606Cys)" "" "0000795650" "00000279" "70" "1003" "0" "1003" "0" "c.1003C>A" "r.(?)" "p.(Pro335Thr)" "" "0000804267" "00000279" "30" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Ser653Phe)" "" "0000817788" "00000279" "50" "874" "0" "874" "0" "c.874C>A" "r.(?)" "p.(Pro292Thr)" "" "0000861791" "00000279" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Ser128=)" "" "0000861792" "00000279" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(Asn347=)" "" "0000888962" "00000279" "50" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0000913198" "00000279" "50" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Gly135Glu)" "" "0000913199" "00000279" "10" "1593" "-5" "1593" "-5" "c.1593-5C>T" "r.spl?" "p.?" "" "0000913200" "00000279" "10" "1593" "-3" "1593" "-3" "c.1593-3T>C" "r.spl?" "p.?" "" "0000913201" "00000279" "50" "1609" "0" "1609" "0" "c.1609T>C" "r.(?)" "p.(Tyr537His)" "" "0000913202" "00000279" "10" "1734" "16" "1734" "16" "c.1734+16C>A" "r.(=)" "p.(=)" "" "0000925101" "00000279" "70" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Asn585Ser)" "" "0000959761" "00000279" "50" "1402" "0" "1402" "0" "c.1402C>G" "r.(?)" "p.(Leu468Val)" "" "0000978859" "00000279" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000998053" "00000279" "70" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Trp)" "" "0000998054" "00000279" "70" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Asn585Ser)" "" "0001025702" "00000279" "50" "1697" "0" "1697" "0" "c.1697A>G" "r.(?)" "p.(Lys566Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000002920" "0000021294" "0000037367" "0000064492" "0000037368" "0000064493" "0000037369" "0000064494" "0000037370" "0000064495" "0000054821" "0000084837" "0000056346" "0000086585" "0000056346" "0000086586" "0000056347" "0000086585" "0000056347" "0000086586" "0000056352" "0000086591" "0000060266" "0000091271" "0000060266" "0000091272" "0000060267" "0000091271" "0000060267" "0000091272" "0000060270" "0000091287" "0000060270" "0000091288" "0000060271" "0000091289" "0000060272" "0000091290" "0000060273" "0000091291" "0000060273" "0000091292" "0000060274" "0000091293" "0000060275" "0000091294" "0000087262" "0000140430" "0000277148" "0000631878" "0000277149" "0000631879" "0000290460" "0000647128" "0000291141" "0000647830" "0000291142" "0000647831" "0000291143" "0000647832" "0000291144" "0000647833" "0000308595" "0000682996" "0000382016" "0000795650" "0000388995" "0000817788"