### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCNO) # 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}}" "CCNO" "cyclin O" "5" "q11.2" "unknown" "NC_000005.9" "UD_136060604730" "" "http://www.LOVD.nl/CCNO" "" "1" "18576" "10309" "607752" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CCNO_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-18 16:08:31" "00006" "2025-11-07 15:53:58" ## 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}}" "00004641" "CCNO" "cyclin O" "001" "NM_021147.3" "" "NP_066970.3" "" "" "" "-157" "1276" "1053" "54529508" "54526980" "" "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" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "04114" "CILD29" "dyskinesia, ciliary, primary, type 29 (CILD-29)" "AR" "615872" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCNO" "04114" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00017598" "" "" "" "2" "" "00006" "{PMID:Casey 2014:24824133}" "4-generation family, 2 affecteds (brothers), unaffected heterozygous carrier parents and 4 relatives" "M" "yes" "Ireland" "" "0" "" "" "Irish Traveller" "" "00049920" "" "" "" "1" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050069" "" "" "" "2" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050071" "" "" "" "2" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050104" "" "" "" "1" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050105" "" "" "" "2" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050106" "" "" "" "1" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050108" "" "" "" "1" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050109" "" "" "" "2" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050110" "" "" "" "1" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050111" "" "" "" "1" "" "01152" "" "" "" "" "" "" "0" "" "" "" "" "00050136" "" "" "" "5" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "4-generation family, 5 affecteds, unaffected heterozygous carriers" "F" "yes" "Kuwait" "" "0" "" "" "" "" "00050137" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "" "00050138" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "" "00050139" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "yes" "" "" "0" "" "" "" "" "00050140" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "4-generation family, 1 affecteds, unaffected heterozygous parents" "M" "yes" "" "" "0" "" "" "" "" "00050141" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "" "00050142" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "" "00050143" "" "" "" "3" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "4-generation family, 3 affecteds (F, 2M), unaffected heterozygous parents" "" "yes" "" "" "0" "" "" "" "" "00050144" "" "" "" "2" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 2 affecteds, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "" "00050145" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "" "00468270" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "non-Hispanic;white" "GMKF_9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00017598" "00332" "00049920" "04114" "00050069" "04114" "00050071" "04114" "00050104" "04114" "00050105" "04114" "00050106" "04114" "00050108" "04114" "00050109" "04114" "00050110" "04114" "00050111" "04114" "00050136" "00332" "00050137" "00332" "00050138" "00332" "00050139" "00332" "00050140" "00332" "00050141" "00332" "00050142" "00332" "00050143" "00332" "00050144" "00332" "00050145" "00332" "00468270" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 04114 ## Count = 22 "{{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}}" "0000015957" "00332" "00017598" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000036697" "04114" "00050069" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036739" "04114" "00050071" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036740" "04114" "00050104" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036741" "04114" "00050105" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036742" "04114" "00049920" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036743" "04114" "00050106" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036744" "04114" "00050108" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036745" "04114" "00050109" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036746" "04114" "00050111" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036747" "04114" "00050110" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036748" "00332" "00050136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036749" "00332" "00050137" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036750" "00332" "00050138" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036751" "00332" "00050139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036752" "00332" "00050140" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036753" "00332" "00050141" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036754" "00332" "00050142" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036755" "00332" "00050143" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036756" "00332" "00050144" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036757" "00332" "00050145" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000353422" "00198" "00468270" "00006" "Di-genic" "" "see paper; ..., tricuspid atresia, VS?, dextro-transposition great arteries, CoA, LV, dextrocardia; atrial situs solitus; left ventricular situs; right arterial situs; complex tricuspid atresia" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017581" "00017598" "1" "00006" "00006" "2014-06-20 23:36:11" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000049989" "00050069" "1" "01152" "01152" "2015-09-17 15:13:19" "" "" "PCR" "DNA" "" "" "0000049993" "00050071" "1" "01152" "01152" "2015-09-17 16:16:27" "" "" "PCR" "DNA" "" "" "0000050047" "00050104" "1" "01152" "01152" "2015-09-22 10:35:52" "" "" "PCR" "DNA" "" "" "0000050048" "00050105" "1" "01152" "01152" "2015-09-22 10:39:18" "" "" "PCR" "DNA" "" "" "0000050049" "00049920" "1" "01152" "01152" "2015-09-22 10:50:49" "" "" "PCR" "DNA" "" "" "0000050050" "00050106" "1" "01152" "01152" "2015-09-22 10:56:27" "" "" "PCR" "DNA" "" "" "0000050053" "00050108" "1" "01152" "01152" "2015-09-22 15:16:09" "" "" "PCR" "DNA" "" "" "0000050054" "00050109" "1" "01152" "01152" "2015-09-22 15:18:46" "" "" "PCR" "DNA" "" "" "0000050055" "00050110" "1" "01152" "01152" "2015-09-22 15:21:43" "" "" "PCR" "DNA" "" "" "0000050056" "00050111" "1" "01152" "01152" "2015-09-22 15:24:33" "" "" "PCR" "DNA" "" "" "0000050081" "00050136" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050082" "00050137" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050083" "00050138" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050084" "00050139" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050085" "00050140" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050086" "00050141" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050087" "00050142" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050088" "00050143" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050089" "00050144" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000050090" "00050145" "1" "00006" "00006" "2015-09-25 20:27:58" "" "" "SEQ" "DNA" "" "" "0000469936" "00468270" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000017581" "CCNO" "0000017581" "CDKN1C" "0000017581" "KCNN3" "0000049989" "CCNO" "0000049993" "CCNO" "0000050047" "CCNO" "0000050048" "CCNO" "0000050049" "CCNO" "0000050050" "CCNO" "0000050053" "CCNO" "0000050054" "CCNO" "0000050055" "CCNO" "0000050056" "CCNO" "0000050081" "CCNO" "0000050082" "CCNO" "0000050083" "CCNO" "0000050084" "CCNO" "0000050085" "CCNO" "0000050086" "CCNO" "0000050087" "CCNO" "0000050088" "CCNO" "0000050089" "CCNO" "0000050090" "CCNO" ## 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 = 43 "{{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}}" "0000037555" "3" "70" "5" "54529099" "54529103" "dup" "0" "00006" "CCNO_000001" "g.54529099_54529103dup" "" "{PMID:Casey 2014:24824133}, {OMIM607752:0001}" "" "" "homozygosity mapping 19 regions / 860 candidate genes" "Germline" "yes" "" "0" "" "" "g.55233271_55233275dup" "" "likely pathogenic" "" "0000078902" "1" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Germline" "" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000078905" "0" "90" "5" "54528276" "54528277" "del" "0" "01152" "CCNO_000002" "g.54528276_54528277del" "" "" "" "481_482delCT" "" "Germline" "" "" "0" "" "" "g.55232448_55232449del" "" "pathogenic" "" "0000078907" "3" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Germline" "" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079001" "3" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Unknown" "" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079002" "3" "90" "5" "54527618" "54527618" "subst" "0.000102075" "01152" "CCNO_000003" "g.54527618A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55231790A>G" "" "pathogenic" "" "0000079003" "2" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Germline" "yes" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079004" "1" "90" "5" "54527618" "54527618" "subst" "0.000102075" "01152" "CCNO_000003" "g.54527618A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55231790A>G" "" "pathogenic" "" "0000079007" "2" "90" "5" "54529188" "54529188" "del" "0" "01152" "CCNO_000004" "g.54529188del" "" "" "" "165delC" "" "Germline" "" "" "0" "" "" "g.55233360del" "" "pathogenic" "" "0000079008" "1" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Germline" "" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079009" "3" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Germline" "" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079010" "3" "90" "5" "54527618" "54527618" "subst" "0.000102075" "01152" "CCNO_000003" "g.54527618A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55231790A>G" "" "pathogenic" "" "0000079011" "3" "90" "5" "54529188" "54529188" "del" "0" "01152" "CCNO_000004" "g.54529188del" "" "" "" "165delC" "" "Unknown" "" "" "0" "" "" "g.55233360del" "" "pathogenic" "" "0000079012" "3" "90" "5" "54529099" "54529103" "dup" "0" "01152" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "258_262dupGGCCC" "" "Germline" "" "" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079039" "3" "90" "5" "54529100" "54529104" "dup" "0" "00006" "CCNO_000005" "g.54529100_54529104dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}, {OMIM607752:0001}" "" "248_252dupTGCCC (Gly85Cysfs*10)" "{CVvar:139599}\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "rs587777498" "0" "" "" "" "" "pathogenic" "" "0000079040" "11" "90" "5" "54529100" "54529104" "dup" "0" "00006" "CCNO_000005" "g.54529100_54529104dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "248_252dupTGCCC (Gly85Cysfs*10)" "{CVvar:139599}\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000079041" "21" "90" "5" "54528276" "54528277" "del" "0" "00006" "CCNO_000002" "g.54528276_54528277del" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "481_482delCT" "{CVvar:139611}" "Germline" "yes" "rs587777503" "0" "" "" "g.55232448_55232449del" "" "pathogenic" "" "0000079042" "3" "90" "5" "54529099" "54529103" "dup" "0" "00006" "CCNO_000001" "g.54529099_54529103dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "258_262dupGGCCC" "{CVvar:139600}" "Germline" "yes" "rs587777499" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079043" "3" "90" "5" "54527332" "54527332" "del" "0" "00006" "CCNO_000006" "g.54527332del" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "926delC" "{CVvar:1396001}" "Germline" "yes" "rs587777500" "0" "" "" "g.55231504del" "" "pathogenic" "" "0000079044" "3" "90" "5" "54527295" "54527295" "subst" "0" "00006" "CCNO_000007" "g.54527295G>A" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "" "{CVvar:1396002}" "Germline" "yes" "rs587777501" "0" "" "" "g.55231467G>A" "" "pathogenic" "" "0000079045" "3" "70" "5" "54527540" "54527540" "subst" "0" "00006" "CCNO_000008" "g.54527540T>C" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55231712T>C" "" "likely pathogenic" "" "0000079046" "3" "90" "5" "54529099" "54529103" "dup" "0" "00006" "CCNO_000001" "g.54529099_54529103dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "258_262dupGGCCC" "{CVvar:139600}" "Germline" "yes" "rs587777499" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079047" "3" "90" "5" "54529099" "54529103" "dup" "0" "00006" "CCNO_000001" "g.54529099_54529103dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "258_262dupGGCCC" "{CVvar:139600}" "Germline" "yes" "rs587777499" "0" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000079048" "3" "90" "5" "54529085" "54529089" "dup" "0" "00006" "CCNO_000009" "g.54529085_54529089dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "263_267dupAGCCC" "{CVvar:1396003}\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "rs587777502" "0" "" "" "" "" "pathogenic" "" "0000079049" "3" "90" "5" "54529100" "54529104" "dup" "0" "00006" "CCNO_000005" "g.54529100_54529104dup" "" "{PMID:Wallmeier 2014:24747639}, {DOI:Wallmeier 2014:10.1038/ng.2961}" "" "248_252dupTGCCC (Gly85Cysfs*10)" "{CVvar:139599}\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "rs587777498" "0" "" "" "" "" "pathogenic" "" "0000344189" "0" "50" "5" "54522479" "54522479" "subst" "0" "02327" "CCNO_000012" "g.54522479G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55226651G>T" "" "VUS" "" "0000350760" "0" "10" "5" "54528388" "54528388" "subst" "0.0644522" "02327" "CCNO_000010" "g.54528388G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232560G>C" "" "benign" "" "0000351281" "0" "10" "5" "54528393" "54528393" "subst" "0.177631" "02327" "CCNO_000011" "g.54528393G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232565G>C" "" "benign" "" "0000525828" "0" "90" "5" "54527468" "54527468" "dup" "0" "02329" "CCNO_000014" "g.54527468dup" "" "" "" "CCNO(NM_021147.5):c.793dupG (p.V265Gfs*106)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55231640dup" "" "pathogenic" "" "0000525829" "0" "90" "5" "54529020" "54529020" "del" "0" "02329" "CCNO_000015" "g.54529020del" "" "" "" "CCNO(NM_021147.5):c.332delC (p.A111Gfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55233192del" "" "pathogenic" "" "0000525830" "0" "90" "5" "54529099" "54529103" "dup" "0" "02329" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "CCNO(NM_021147.5):c.258_262dupGGCCC (p.Q88Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55233271_55233275dup" "" "pathogenic" "" "0000720455" "0" "30" "5" "54522844" "54522844" "subst" "0.00494868" "01943" "CCNO_000013" "g.54522844C>T" "" "" "" "MCIDAS(NM_001190787.1):c.120+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720456" "0" "50" "5" "54522926" "54522926" "subst" "0" "01943" "CCNO_000016" "g.54522926A>G" "" "" "" "MCIDAS(NM_001190787.1):c.41T>C (p.F14S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720457" "0" "30" "5" "54527476" "54527476" "subst" "0.00451085" "01943" "CCNO_000017" "g.54527476G>A" "" "" "" "CCNO(NM_021147.4):c.780C>T (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802131" "0" "50" "5" "54522483" "54522483" "subst" "2.4589E-5" "01943" "CCNO_000018" "g.54522483A>C" "" "" "" "MCIDAS(NM_001190787.1):c.230T>G (p.I77R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802132" "0" "50" "5" "54522929" "54522929" "subst" "0" "01943" "CCNO_000019" "g.54522929G>T" "" "" "" "MCIDAS(NM_001190787.1):c.38C>A (p.A13D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802133" "0" "90" "5" "54529133" "54529133" "del" "0" "02329" "CCNO_000020" "g.54529133del" "" "" "" "CCNO(NM_021147.5):c.222delC (p.S75Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886886" "0" "90" "5" "54529099" "54529103" "dup" "0" "02325" "CCNO_000001" "g.54529099_54529103dup" "" "" "" "CCNO(NM_021147.5):c.258_262dupGGCCC (p.Q88Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995090" "0" "90" "5" "54527437" "54527437" "subst" "0" "02327" "CCNO_000021" "g.54527437A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995091" "0" "90" "5" "54529089" "54529093" "dup" "0" "01804" "CCNO_000022" "g.54529089_54529093dup" "" "" "" "CCNO(NM_021147.3):c.263_267dupAGCCC (p.(Val90fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025113" "0" "70" "5" "54529039" "54529039" "subst" "0" "02329" "CCNO_000023" "g.54529039A>G" "" "" "" "CCNO(NM_021147.5):c.313T>C (p.C105R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051964" "0" "70" "5" "54529094" "54529103" "del" "0" "01804" "CCNO_000024" "g.54529094_54529103del" "" "" "" "CCNO(NM_021147.5):c.253_262del (p.(Gly85Serfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001058012" "1" "70" "5" "54529165" "54529165" "subst" "0.000469393" "00006" "CCNO_000025" "g.54529165A>G" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.55233337A>G" "" "likely pathogenic (!)" "" ## 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 CCNO ## Count = 43 "{{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}}" "0000037555" "00004641" "70" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000078902" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000078905" "00004641" "90" "481" "0" "482" "0" "c.481_482del" "r.(?)" "p.(Leu161Glyfs*73)" "2" "0000078907" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079001" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079002" "00004641" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "3" "0000079003" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079004" "00004641" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "3" "0000079007" "00004641" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Gly56Alafs*38)" "1" "0000079008" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079009" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079010" "00004641" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "3" "0000079011" "00004641" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Gly56Alafs*38)" "1" "0000079012" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079039" "00004641" "90" "248" "0" "252" "0" "248_252dup" "r.(?)" "p.(Gly85Cysfs*11)" "1" "0000079040" "00004641" "90" "248" "0" "252" "0" "248_252dup" "r.(?)" "p.(Gly85Cysfs*11)" "1" "0000079041" "00004641" "90" "481" "0" "482" "0" "c.481_482del" "r.(?)" "p.(Leu161Glyfs*73)" "2" "0000079042" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079043" "00004641" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Pro309Argfs*18)" "3" "0000079044" "00004641" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "3" "0000079045" "00004641" "70" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(His239Arg)" "3" "0000079046" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079047" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88Argfs*8)" "1" "0000079048" "00004641" "90" "263" "0" "267" "0" "c.263_267" "r.(?)" "p.(Val90Serfs*6)" "3" "0000079049" "00004641" "90" "248" "0" "252" "0" "248_252dup" "r.(?)" "p.(Gly85Cysfs*11)" "1" "0000344189" "00004641" "50" "5777" "0" "5777" "0" "c.*4724C>A" "r.(=)" "p.(=)" "" "0000350760" "00004641" "10" "382" "-14" "382" "-14" "c.382-14C>G" "r.(=)" "p.(=)" "" "0000351281" "00004641" "10" "382" "-19" "382" "-19" "c.382-19C>G" "r.(=)" "p.(=)" "" "0000525828" "00004641" "90" "793" "0" "793" "0" "c.793dup" "r.(?)" "p.(Val265GlyfsTer106)" "" "0000525829" "00004641" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Ala111GlyfsTer18)" "" "0000525830" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88ArgfsTer8)" "" "0000720455" "00004641" "30" "5412" "0" "5412" "0" "c.*4359G>A" "r.(=)" "p.(=)" "" "0000720456" "00004641" "50" "5330" "0" "5330" "0" "c.*4277T>C" "r.(=)" "p.(=)" "" "0000720457" "00004641" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ala260=)" "" "0000802131" "00004641" "50" "5773" "0" "5773" "0" "c.*4720T>G" "r.(=)" "p.(=)" "" "0000802132" "00004641" "50" "5327" "0" "5327" "0" "c.*4274C>A" "r.(=)" "p.(=)" "" "0000802133" "00004641" "90" "222" "0" "222" "0" "c.222del" "r.(?)" "p.(Ser75Leufs*19)" "" "0000886886" "00004641" "90" "258" "0" "262" "0" "c.258_262dup" "r.(?)" "p.(Gln88ArgfsTer8)" "" "0000995090" "00004641" "90" "819" "0" "819" "0" "c.819T>G" "r.(?)" "p.(Tyr273*)" "" "0000995091" "00004641" "90" "263" "0" "267" "0" "c.263_267dup" "r.(?)" "p.(Val90Serfs*6)" "" "0001025113" "00004641" "70" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Cys105Arg)" "" "0001051964" "00004641" "70" "253" "0" "262" "0" "c.253_262del" "r.(?)" "p.(Gly85Serfs*6)" "" "0001058012" "00004641" "70" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Ser63Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000017581" "0000037555" "0000049989" "0000078902" "0000049989" "0000078905" "0000049993" "0000078907" "0000050047" "0000079001" "0000050048" "0000079002" "0000050049" "0000079003" "0000050049" "0000079004" "0000050050" "0000079007" "0000050050" "0000079008" "0000050053" "0000079009" "0000050054" "0000079010" "0000050055" "0000079011" "0000050056" "0000079012" "0000050081" "0000079039" "0000050082" "0000079040" "0000050082" "0000079041" "0000050083" "0000079042" "0000050084" "0000079043" "0000050085" "0000079044" "0000050086" "0000079045" "0000050087" "0000079046" "0000050088" "0000079047" "0000050089" "0000079048" "0000050090" "0000079049" "0000469936" "0001058012"