### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C10orf11)
# 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}}"
"C10orf11" "chromosome 10 open reading frame 11" "10" "q22.3" "unknown" "NC_000010.10" "UD_132319342909" "" "https://www.LOVD.nl/LRMDA" "" "1" "23405" "83938" "614537" "1" "1" "1" "1" "NOTE: gene name changed from C10orf11 to LRMDA" "" "g" "https://databases.lovd.nl/shared/refseq/C10orf11_codingDNA.html" "1" "" "NOTE: gene name changed from C10orf11 to LRMDA" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-27 12:01:15" "00000" "2024-04-19 20:27:30"
## 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}}"
"00003909" "C10orf11" "chromosome 10 open reading frame 11" "001" "NM_032024.3" "" "NP_114413.1" "" "" "" "-215" "681" "597" "77542519" "78317130" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"00850" "OCA7" "albinism, oculocutaneous, type VII (OCA7)" "AR" "615179" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-27 12:00:26"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05536" "albinism" "albinism" "" "" "" "" "" "00006" "2018-12-22 14:34:16" "00006" "2022-01-24 17:04:35"
"05537" "OCA" "albinism, oculocutaneous" "" "" "" "" "" "00006" "2018-12-22 14:35:14" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"C10orf11" "00850"
"C10orf11" "05537"
## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00050412" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00290145" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308603" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" ""
"00400184" "" "" "" "1" "" "00006" "{PMID:Lasseaux 2018:29345414}" "analysis 990 cases albinism" "" "" "Morocco" "" "0" "" "" "" "LRMDA-P1"
"00400185" "" "" "" "1" "" "00006" "{PMID:Lasseaux 2018:29345414}" "analysis 990 cases albinism" "" "" "Turkey" "" "0" "" "" "" "LRMDA-P2"
"00400186" "" "" "" "1" "" "00006" "{PMID:Lasseaux 2018:29345414}" "analysis 990 cases albinism" "" "" "" "" "0" "" "" "white" "LRMDA-P3"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}" "{{diseaseid}}"
"00050412" "00198"
"00290145" "00198"
"00308603" "04214"
"00400184" "05536"
"00400185" "05536"
"00400186" "05536"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00850, 04214, 05536, 05537
## Count = 5
"{{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}}"
"0000037024" "00198" "00050412" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, delayed speech and language development, specific learning disability, telecanthus, blepharophimosis, microtia" "" "" "" "" "" "" "" "" "" "" ""
"0000234031" "04214" "00308603" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000293225" "05536" "00400184" "00006" "Familial, autosomal recessive" "" "see paper; ..., pale skin, light brown hair" "" "" "" "" "" "" "" "" "OA7" "albinism" ""
"0000293226" "05536" "00400185" "00006" "Familial, autosomal recessive" "" "see paper; ..., pale skin, light brown hair" "" "" "" "" "" "" "" "" "OA7" "albinism" ""
"0000293227" "05536" "00400186" "00006" "Familial, autosomal recessive" "" "see paper; ..., pale skin, light brown hair" "" "" "" "" "" "" "" "" "OA7" "albinism" ""
## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050357" "00050412" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000291313" "00290145" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309748" "00308603" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000401427" "00400184" "1" "00006" "00006" "2022-01-24 17:15:50" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000401428" "00400185" "1" "00006" "00006" "2022-01-24 17:15:50" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000401429" "00400186" "1" "00006" "00006" "2022-01-24 17:15:50" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000309748" "C10orf11"
## 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 = 25
"{{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}}"
"0000079337" "0" "90" "10" "75971593" "78526861" "del" "0" "00006" "ADK_000001" "g.75971593_78526861del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.74211835_76767103del" "" "pathogenic" ""
"0000263825" "0" "10" "10" "77795827" "77795827" "subst" "0.00190474" "02330" "C10orf11_000001" "g.77795827C>T" "" "" "" "C10orf11(NM_032024.4):c.109C>T (p.L37=), LRMDA(NM_032024.5):c.109C>T (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76036069C>T" "" "benign" ""
"0000272218" "0" "30" "10" "77795827" "77795827" "subst" "0.00190474" "01943" "C10orf11_000001" "g.77795827C>T" "" "" "" "C10orf11(NM_032024.4):c.109C>T (p.L37=), LRMDA(NM_032024.5):c.109C>T (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76036069C>T" "" "likely benign" ""
"0000272219" "0" "10" "10" "77818505" "77818505" "subst" "0.00172582" "01943" "C10orf11_000003" "g.77818505G>T" "" "" "" "C10orf11(NM_032024.4):c.396G>T (p.L132F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76058747G>T" "" "benign" ""
"0000541000" "0" "30" "10" "77542765" "77542765" "subst" "0.000349998" "01943" "C10orf11_000005" "g.77542765A>C" "" "" "" "C10orf11(NM_032024.4):c.32A>C (p.H11P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75783007A>C" "" "likely benign" ""
"0000541002" "0" "10" "10" "77795856" "77795856" "subst" "0.00106829" "02330" "C10orf11_000006" "g.77795856A>G" "" "" "" "LRMDA(NM_032024.5):c.138A>G (p.L46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76036098A>G" "" "benign" ""
"0000541004" "0" "30" "10" "78084188" "78084188" "subst" "0.00015839" "01943" "C10orf11_000007" "g.78084188G>A" "" "" "" "C10orf11(NM_032024.4):c.462G>A (p.P154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76324430G>A" "" "likely benign" ""
"0000541005" "0" "50" "10" "78084193" "78084193" "subst" "0.000235546" "02330" "C10orf11_000008" "g.78084193G>A" "" "" "" "LRMDA(NM_032024.5):c.467G>A (p.R156H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76324435G>A" "" "VUS" ""
"0000541006" "0" "30" "10" "78316989" "78316989" "subst" "4.46697E-5" "01943" "C10orf11_000009" "g.78316989C>T" "" "" "" "C10orf11(NM_032024.4):c.540C>T (p.Y180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76557231C>T" "" "likely benign" ""
"0000612675" "0" "30" "10" "77795793" "77795793" "subst" "8.53069E-5" "02330" "C10orf11_000011" "g.77795793G>A" "" "" "" "LRMDA(NM_032024.4):c.75G>A (p.R25=), LRMDA(NM_032024.5):c.75G>A (p.R25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76036035G>A" "" "likely benign" ""
"0000612676" "0" "50" "10" "78317014" "78317014" "subst" "1.62435E-5" "02327" "C10orf11_000012" "g.78317014G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76557256G>A" "" "VUS" ""
"0000612677" "0" "70" "10" "78317029" "78317029" "subst" "2.43667E-5" "02330" "C10orf11_000013" "g.78317029C>T" "" "" "" "LRMDA(NM_032024.4):c.580C>T (p.R194*), LRMDA(NM_032024.5):c.580C>T (p.R194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76557271C>T" "" "likely pathogenic" ""
"0000622432" "0" "30" "10" "77191503" "77191503" "subst" "0" "02330" "C10orf11_000010" "g.77191503T>C" "" "" "" "LRMDA(NM_001305581.2):c.21T>C (p.R7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75431745T>C" "" "likely benign" ""
"0000648002" "1" "50" "10" "77542754" "77542754" "del" "0.00389748" "03575" "C10orf11_000014" "g.77542754del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs146123023}" "Germline" "" "rs146123023" "0" "" "" "g.75782996del" "" "VUS" ""
"0000656565" "0" "10" "10" "77191441" "77191441" "subst" "0.629996" "02327" "C10orf11_000015" "g.77191441C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75431683C>A" "" "benign" ""
"0000656566" "0" "10" "10" "77807027" "77807027" "subst" "0.381129" "02327" "C10orf11_000002" "g.77807027T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76047269T>C" "" "benign" ""
"0000678916" "0" "30" "10" "77795793" "77795793" "subst" "8.53069E-5" "01943" "C10orf11_000011" "g.77795793G>A" "" "" "" "LRMDA(NM_032024.4):c.75G>A (p.R25=), LRMDA(NM_032024.5):c.75G>A (p.R25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678917" "0" "90" "10" "78317029" "78317029" "subst" "2.43667E-5" "01943" "C10orf11_000013" "g.78317029C>T" "" "" "" "LRMDA(NM_032024.4):c.580C>T (p.R194*), LRMDA(NM_032024.5):c.580C>T (p.R194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000684621" "3" "70" "10" "77795784" "77795784" "dup" "0" "00004" "C10orf11_000004" "g.77795784dup" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.66dupC" "" "Germline" "" "" "0" "" "" "g.76036026dup" "" "likely pathogenic (recessive)" ""
"0000722939" "0" "50" "10" "77795878" "77795878" "subst" "0" "01943" "C10orf11_000016" "g.77795878C>A" "" "" "" "LRMDA(NM_032024.4):c.160C>A (p.L54I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000834647" "3" "90" "10" "77818491" "77818491" "subst" "2.03041E-5" "00006" "C10orf11_000019" "g.77818491C>T" "" "{PMID:Lasseaux 2018:29345414}" "" "c.466C>T (Arg156*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834648" "3" "90" "10" "77795784" "77795784" "dup" "0" "00006" "C10orf11_000004" "g.77795784dup" "" "{PMID:Lasseaux 2018:29345414}" "" "c.150dup (Ala51Argfs*39)" "" "Germline" "" "" "0" "" "" "g.76036026dup" "" "pathogenic (recessive)" ""
"0000834649" "11" "90" "10" "77795881" "77795881" "subst" "0" "00006" "C10orf11_000018" "g.77795881A>T" "" "{PMID:Lasseaux 2018:29345414}" "" "c.247A>T (Asn83Tyr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834667" "21" "90" "10" "77795807" "77795807" "subst" "0" "00006" "C10orf11_000017" "g.77795807T>C" "" "{PMID:Lasseaux 2018:29345414}" "" "c.173T>C (Leu58Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000861995" "0" "30" "10" "77191528" "77191528" "subst" "0.000241654" "02330" "C10orf11_000020" "g.77191528C>T" "" "" "" "LRMDA(NM_001305581.2):c.30+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 C10orf11
## Count = 25
"{{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}}"
"0000079337" "00003909" "00" "-1571141" "0" "210412" "0" "c.-1571141_*209815del" "r.?" "p.?" ""
"0000263825" "00003909" "10" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Leu37=)" ""
"0000272218" "00003909" "30" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Leu37=)" ""
"0000272219" "00003909" "10" "396" "0" "396" "0" "c.396G>T" "r.(?)" "p.(Leu132Phe)" ""
"0000541000" "00003909" "30" "32" "0" "32" "0" "c.32A>C" "r.(?)" "p.(His11Pro)" ""
"0000541002" "00003909" "10" "138" "0" "138" "0" "c.138A>G" "r.(?)" "p.(Leu46=)" ""
"0000541004" "00003909" "30" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Pro154=)" ""
"0000541005" "00003909" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156His)" ""
"0000541006" "00003909" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Tyr180=)" ""
"0000612675" "00003909" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Arg25=)" ""
"0000612676" "00003909" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Gly189Ser)" ""
"0000612677" "00003909" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Ter)" ""
"0000622432" "00003909" "30" "-351231" "0" "-351231" "0" "c.-351231T>C" "r.(?)" "p.(=)" ""
"0000648002" "00003909" "50" "21" "0" "21" "0" "c.21del" "r.(?)" "p.(Ser8Alafs*14)" ""
"0000656565" "00003909" "10" "-351293" "0" "-351293" "0" "c.-351293C>A" "r.(?)" "p.(=)" ""
"0000656566" "00003909" "10" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Leu94=)" ""
"0000678916" "00003909" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Arg25=)" ""
"0000678917" "00003909" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Ter)" ""
"0000684621" "00003909" "70" "66" "0" "66" "0" "c.66dup" "r.(?)" "p.(Ala23Argfs*39)" ""
"0000722939" "00003909" "50" "160" "0" "160" "0" "c.160C>A" "r.(?)" "p.(Leu54Ile)" ""
"0000834647" "00003909" "90" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128*)" "4"
"0000834648" "00003909" "90" "66" "0" "66" "0" "c.66dup" "r.(?)" "p.(Ala23Argfs*39)" "2"
"0000834649" "00003909" "90" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Asn55Tyr)" "2"
"0000834667" "00003909" "90" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Leu30Pro)" "2"
"0000861995" "00003909" "30" "-351206" "0" "-351206" "0" "c.-351206C>T" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000050357" "0000079337"
"0000291313" "0000648002"
"0000309748" "0000684621"
"0000401427" "0000834647"
"0000401428" "0000834648"
"0000401429" "0000834649"
"0000401429" "0000834667"