### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RNASEH1)
# 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}}"
"RNASEH1"	"ribonuclease H1"	"2"	"p25"	"unknown"	"NC_000002.11"	"UD_132378853849"	""	"http://www.LOVD.nl/RNASEH1"	""	"1"	"18466"	"246243"	"604123"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/RNASEH1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-07-24 21:52:12"	"00006"	"2026-03-06 17:26:39"


## 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}}"
"00017847"	"RNASEH1"	"ribonuclease H1"	"001"	"NM_002936.3"	""	"NP_002927.2"	""	""	""	"-90"	"1558"	"861"	"3605940"	"3592678"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04245"	"PEOA"	"ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant (PEOA)"	""	""	""	""	""	"00006"	"2015-05-01 19:52:34"	""	""
"04646"	"PEOB2"	"ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal recessive, type 2 (PEOB-2)"	"AR"	"616479"	""	""	""	"00000"	"2015-09-23 10:25:23"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"RNASEH1"	"04646"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00046789"	""	""	""	"1"	""	"00006"	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	"2-generation family, 1 affected,unaffected heterozygous carrier parents"	"F"	"no"	""	">42y"	"0"	""	""	""	""
"00046790"	""	""	""	"1"	""	"00006"	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs"	"M"	"no"	""	">46y"	"0"	""	""	""	""
"00046791"	""	""	""	"4"	""	"00006"	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}, {PMID:Legati 2016:26968897}"	"3-generation family, 4 affecteds (3F, 1M), unaffected heterozygous carrier parents/children"	"F"	"yes"	"Italy"	""	"0"	""	""	""	""
"00473196"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam107923Pat373"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00046789"	"04245"
"00046790"	"04245"
"00046791"	"04245"
"00473196"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04245, 04646
## Count = 4
"{{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}}"
"0000034300"	"04245"	"00046789"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000034301"	"04245"	"00046790"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000034302"	"04245"	"00046791"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., progressive external ophtalmoparesis,  cerebellar signs"	"45y"	""	""	""	""	""	""	""	""	"multiple RC complex defect"	""
"0000357991"	"00198"	"00473196"	"00006"	"Unknown"	"63y"	"onset 48y, Facial weakness, bilateral ptosis; Hypotonia; Proximal muscle weakness & wasting; Dysarthria; Single fiber EMG: suggestive of mild neuromuscular junction disorder; Muscle biopsy: suggestive of mitochondrial myopathies; Brain MRI: suggestive of ischemia of atherosclerotic micro-vascular occlusive disease."	""	""	""	""	""	""	""	""	""	"mitochondrial disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000046898"	"00046789"	"1"	"00006"	"00006"	"2015-07-24 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000046899"	"00046790"	"1"	"00006"	"00006"	"2015-07-24 21:57:48"	""	""	"SEQ"	"DNA"	""	""
"0000046900"	"00046791"	"1"	"00006"	"00006"	"2015-07-24 22:09:11"	""	""	"SEQ"	"DNA"	""	""
"0000474865"	"00473196"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000046898"	"RNASEH1"
"0000046899"	"RNASEH1"
"0000046900"	"RNASEH1"


## 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 = 7
"{{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}}"
"0000075426"	"11"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"00006"	"RNASEH1_000001"	"g.3598048C>T"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3550458C>T"	""	"pathogenic"	""
"0000075427"	"21"	"90"	"2"	"3598003"	"3598003"	"subst"	"8.12269E-6"	"00006"	"RNASEH1_000002"	"g.3598003G>A"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3550413G>A"	""	"pathogenic"	""
"0000075428"	"21"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"00006"	"RNASEH1_000001"	"g.3598048C>T"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3550458C>T"	""	"pathogenic"	""
"0000075429"	"11"	"90"	"2"	"3596658"	"3596658"	"subst"	"0"	"00006"	"RNASEH1_000003"	"g.3596658G>A"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3549068G>A"	""	"pathogenic"	""
"0000075430"	"3"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"00006"	"RNASEH1_000001"	"g.3598048C>T"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3550458C>T"	""	"pathogenic"	""
"0000947837"	"0"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"02327"	"RNASEH1_000001"	"g.3598048C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001069263"	"3"	"50"	"2"	"3604486"	"3604486"	"subst"	"0"	"00006"	"RNASEH1_000004"	"g.3604486C>T"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.3556896C>T"	"SCV006075179.1"	"VUS"	"ACMG"


## 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 RNASEH1
## Count = 7
"{{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}}"
"0000075426"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	"4"
"0000075427"	"00017847"	"90"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157*)"	"4"
"0000075428"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	"4"
"0000075429"	"00017847"	"90"	"554"	"0"	"554"	"0"	"c.554C>T"	"r.(?)"	"p.(Ala185Val)"	"5"
"0000075430"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	"4"
"0000947837"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	""
"0001069263"	"00017847"	"50"	"137"	"0"	"137"	"0"	"c.137G>A"	"r.(?)"	"p.(Cys46Tyr)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000046898"	"0000075426"
"0000046898"	"0000075427"
"0000046899"	"0000075428"
"0000046899"	"0000075429"
"0000046900"	"0000075430"
"0000474865"	"0001069263"