### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C11orf70)
# 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}}"
"C11orf70" "chromosome 11 open reading frame 70" "11" "q22.1" "unknown" "NC_000011.9" "UD_136085941479" "" "https://www.LOVD.nl/CFAP300" "" "1" "28188" "85016" "0" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from C11orf70 to CFAP300.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/C11orf70_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from C11orf70 to CFAP300." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-14 10:52:23" "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}}"
"00003963" "C11orf70" "transcript variant 1" "001" "NM_032930.2" "" "NP_116319.2" "" "" "" "-33" "2165" "804" "101918169" "101955291" "" "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}}"
"00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20"
"06125" "CILD38" "Ciliary dyskinesia, primary, 38" "AR" "618063" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C11orf70" "06125"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00164726" "" "" "" "1" "" "00006" "{PMID:Höben 2018:29727693}" "3-generation family, 1 affected, unaffected parents" "F" "" "Israel" "" "0" "" "" "" "29727693-PatOI-87"
"00164727" "" "" "" "1" "" "00006" "{PMID:Höben 2018:29727693}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "Germany" "" "0" "" "" "" "29727693-PatOP-1416II1"
"00164728" "" "" "" "1" "" "00006" "{PMID:Höben 2018:29727693}" "5-generation family, 1 affected, unaffected carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "29727693-PatOP-2249II1"
"00164729" "" "" "" "1" "" "00006" "{PMID:Höben 2018:29727693}" "2-generation family, 1 affected, unaffected parents" "F" "" "Germany" "" "0" "" "" "" "29727693-PatOP-2190"
"00164730" "" "" "" "3" "" "00006" "{PMID:Höben 2018:29727693}" "4-generation family, 3 affected (2F, M), unaffected carrier parents" "M" "" "Italy" "" "0" "" "" "" "29727693-PatOP-2334"
"00164731" "" "" "" "2" "" "00006" "{PMID:Fassad 2018:29727692}" "2-generation family, 2 affected brothers, unaffected carrier parents/brother" "M" "yes" "Pakistan" "" "0" "" "" "" "29727692-Fam1"
"00164732" "" "" "" "1" "" "00006" "{PMID:Fassad 2018:29727692}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "India" "" "0" "" "" "" "29727692-Fam2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00164726" "00332"
"00164727" "00332"
"00164728" "00332"
"00164729" "00332"
"00164730" "00332"
"00164731" "00332"
"00164732" "00332"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00332, 06125
## Count = 7
"{{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}}"
"0000129765" "00332" "00164726" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000129766" "00332" "00164727" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000129767" "00332" "00164728" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000129768" "00332" "00164729" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000129769" "00332" "00164730" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000129770" "00332" "00164731" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000129771" "00332" "00164732" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000165593" "00164726" "1" "00006" "00006" "2018-06-05 21:25:23" "" "" "SEQ" "DNA" "" "WES"
"0000165594" "00164727" "1" "00006" "00006" "2018-06-05 21:29:33" "" "" "SEQ" "DNA" "" "WES"
"0000165595" "00164728" "1" "00006" "00006" "2018-06-05 21:32:57" "" "" "SEQ" "DNA" "" "WES"
"0000165596" "00164729" "1" "00006" "00006" "2018-06-05 21:36:36" "" "" "SEQ" "DNA" "" ""
"0000165597" "00164730" "1" "00006" "00006" "2018-06-05 21:43:22" "" "" "SEQ" "DNA" "" "WES"
"0000165598" "00164731" "1" "00006" "00006" "2018-06-05 21:49:46" "" "" "SEQ" "DNA" "" "gene panel"
"0000165599" "00164732" "1" "00006" "00006" "2018-06-05 21:52:53" "" "" "SEQ" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{geneid}}"
"0000165593" "C11orf70"
"0000165594" "C11orf70"
"0000165595" "C11orf70"
"0000165596" "C11orf70"
"0000165597" "C11orf70"
"0000165598" "C11orf70"
"0000165599" "C11orf70"
## 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 = 9
"{{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}}"
"0000369322" "3" "90" "11" "101929616" "101929618" "del" "0" "00006" "C11orf70_000001" "g.101929616_101929618delinsCC" "" "{PMID:Höben 2018:29727693}" "" "" "" "Germline" "" "" "0" "" "" "g.102058885_102058887delinsCC" "" "pathogenic" ""
"0000369323" "3" "90" "11" "101929616" "101929618" "del" "0" "00006" "C11orf70_000001" "g.101929616_101929618delinsCC" "" "{PMID:Höben 2018:29727693}" "" "" "" "Germline" "" "" "0" "" "" "g.102058885_102058887delinsCC" "" "pathogenic" ""
"0000369324" "3" "90" "11" "101937308" "101937308" "subst" "8.17414E-6" "00006" "C11orf70_000002" "g.101937308C>T" "" "{PMID:Höben 2018:29727693}" "" "" "" "Germline" "" "" "0" "" "" "g.102066577C>T" "" "pathogenic" ""
"0000369325" "3" "90" "11" "101937380" "101937380" "subst" "2.139E-5" "00006" "C11orf70_000003" "g.101937380A>T" "" "{PMID:Höben 2018:29727693}" "" "" "" "Germline" "" "" "0" "" "" "g.102066649A>T" "" "pathogenic" ""
"0000369326" "3" "90" "11" "101937308" "101937308" "subst" "8.17414E-6" "00006" "C11orf70_000002" "g.101937308C>T" "" "{PMID:Höben 2018:29727693}" "" "" "" "Germline" "" "" "0" "" "" "g.102066577C>T" "" "pathogenic" ""
"0000369327" "3" "90" "11" "101953902" "101953902" "subst" "1.3609E-5" "00006" "C11orf70_000004" "g.101953902A>G" "" "{PMID:Fassad 2018:29727692}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102083171A>G" "" "pathogenic" ""
"0000369328" "11" "90" "11" "101918589" "101918589" "subst" "1.21841E-5" "00006" "C11orf70_000005" "g.101918589C>T" "" "{PMID:Fassad 2018:29727692}" "" "" "" "Germline" "" "" "0" "" "" "g.102047858C>T" "" "pathogenic" ""
"0000369329" "21" "90" "11" "101937308" "101937308" "subst" "8.17414E-6" "00006" "C11orf70_000002" "g.101937308C>T" "" "{PMID:Fassad 2018:29727692}" "" "" "" "Germline" "" "" "0" "" "" "g.102066577C>T" "" "pathogenic" ""
"0001054044" "0" "50" "11" "101918634" "101918634" "subst" "4.06822E-6" "01804" "C11orf70_000006" "g.101918634A>G" "" "" "" "CFAP300(NM_032930.3):c.192+7A>G" "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 C11orf70
## Count = 9
"{{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}}"
"0000369322" "00003963" "90" "198" "0" "200" "0" "c.198_200delinsCC" "r.(?)" "p.(Phe67Profs*10)" ""
"0000369323" "00003963" "90" "198" "0" "200" "0" "c.198_200delinsCC" "r.(?)" "p.(Phe67Profs*10)" ""
"0000369324" "00003963" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" ""
"0000369325" "00003963" "90" "433" "0" "433" "0" "c.433A>T" "r.(?)" "p.(Arg145*)" ""
"0000369326" "00003963" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" ""
"0000369327" "00003963" "90" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(His259Arg)" ""
"0000369328" "00003963" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Gln52*)" ""
"0000369329" "00003963" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" ""
"0001054044" "00003963" "50" "192" "7" "192" "7" "c.192+7A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{variantid}}"
"0000165593" "0000369322"
"0000165594" "0000369323"
"0000165595" "0000369324"
"0000165596" "0000369325"
"0000165597" "0000369326"
"0000165598" "0000369327"
"0000165599" "0000369328"
"0000165599" "0000369329"