### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP120) # 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}}" "CEP120" "centrosomal protein 120kDa" "5" "q23.2" "unknown" "NC_000005.9" "UD_132610031862" "" "http://www.LOVD.nl/CEP120" "" "1" "26690" "153241" "613446" "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/CEP120_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-02-12 02:03:18" "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}}" "00004995" "CEP120" "transcript variant 1" "002" "NM_153223.3" "" "NP_694955.2" "" "" "" "-116" "4595" "2961" "122759286" "122680579" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00078" "MKS1" "Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)" "AR" "249000" "" "" "" "00015" "2012-11-09 15:11:48" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04404" "SRTD13" "dysplasia, short-rib thoracic, type 13 with/without polydactyly (SRTD-13)" "AR" "616300" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06666" "JBTS31" "Joubert syndrome 31" "AR" "617761" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CEP120" "04404" "CEP120" "06666" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00058830" "" "" "" "1" "" "01469" "" "" "F" "yes" "Italy" "" "0" "" "" "" "" "00058831" "" "" "" "1" "" "01469" "" "" "M" "no" "United States" "" "0" "" "" "" "" "00058832" "" "" "" "1" "" "01469" "" "" "M" "yes" "Palestine" "" "0" "" "" "" "" "00058833" "" "" "" "1" "" "01469" "" "" "F" "no" "India" "" "0" "" "" "" "" "00058834" "" "" "" "1" "" "01469" "" "fetus, terminated pregnancy" "M" "yes" "Turkey" "<00y00m00d" "0" "" "" "" "" "00058835" "" "" "" "1" "" "01469" "" "fetus, terminated pregnancy" "M" "no" "Belgium" "<00y00m00d" "0" "" "" "" "" "00331351" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "11DG0416" "00331352" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "13DG1526" "00407358" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-83" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00058830" "05109" "00058831" "05109" "00058832" "05109" "00058833" "05109" "00058834" "00078" "00058835" "05109" "00331351" "05517" "00331352" "05517" "00407358" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00078, 04214, 04404, 05109, 05517, 06666 ## Count = 9 "{{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}}" "0000045419" "05109" "00058830" "01469" "Familial, autosomal recessive" "" "She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Midly ventriculomegaly" "" "" "" "" "" "" "" "" "" "0000045420" "05109" "00058831" "01469" "Familial, autosomal recessive" "" "He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual, abnormal ocular movements were observed in this proband. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CC hypoplasia" "" "" "" "" "" "" "" "" "" "0000045421" "05109" "00058832" "01469" "Familial, autosomal recessive" "" "He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton." "" "" "" "" "" "" "" "" "" "0000045422" "05109" "00058833" "01469" "Familial, autosomal recessive" "" "She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Strabismus is reported." "" "" "" "" "" "" "" "" "" "0000045423" "00078" "00058834" "01469" "Familial, autosomal recessive" "" "Presence of cystic dysplastic kidneys, occipital encephalocele, and polydactyly. In addition, post-mortem examination after pregnancy termination (23gw) disclosed a narrow bell-shaped thorax with short ribs, rhizomelic limb shortening, bowing of long bones, microphthalmia, oral-facial defects (lobulated tongue with multiple frenula and cleft soft palate), ambiguous genitalia and anal atresia. Data on liver involvement was not available." "" "" "" "" "" "" "" "" "" "0000045424" "05109" "00058835" "01469" "Familial, autosomal recessive" "" "Fetus (SW-476410) was diagnosed in utero with tecto-cerebellar dysraphia with occipital encephalocele findings in the spectrum of JS, due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the MTS. In addition, post-mortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of limbs. Liver and kidneys were normal, and no polydactyly was observed." "" "" "" "" "" "" "" "" "" "0000249543" "05517" "00331351" "00000" "Familial, autosomal recessive" "" "Stillbirth, Skeletal dysplasia, Polydactyly, Narrow chest, Limb undergrowth, Syndactyly, CeNo" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "0000249544" "05517" "00331352" "00000" "Familial, autosomal recessive" "" "Narrow chest, Abnormal facial shape, Relative macrocephaly, Hypertelorism, Median cleft No" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "0000299712" "04214" "00407358" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058794" "00058830" "1" "01469" "01469" "2016-02-08 11:46:11" "" "" "SEQ" "DNA" "" "" "0000058795" "00058831" "1" "01469" "01469" "2016-02-08 11:59:08" "" "" "SEQ" "DNA" "" "" "0000058796" "00058832" "1" "01469" "01469" "2016-02-08 12:13:32" "" "" "SEQ" "DNA" "" "" "0000058797" "00058833" "1" "01469" "01469" "2016-02-08 12:31:31" "" "" "SEQ" "DNA" "" "" "0000058798" "00058834" "1" "01469" "01469" "2016-02-08 12:38:51" "" "" "SEQ" "DNA" "" "" "0000058799" "00058835" "1" "01469" "01469" "2016-02-08 12:48:33" "" "" "SEQ" "DNA" "" "" "0000332570" "00331351" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332571" "00331352" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408606" "00407358" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000058794" "CEP120" "0000058795" "CEP120" "0000058796" "CEP120" "0000058797" "CEP120" "0000058798" "CEP120" "0000058799" "CEP120" "0000332570" "CEP120" "0000332571" "CEP120" "0000408606" "INADL" ## 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 = 47 "{{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}}" "0000089481" "3" "70" "5" "122734861" "122734861" "subst" "0" "01469" "CEP120_000005" "g.122734861A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123399167A>G" "" "likely pathogenic" "" "0000089482" "0" "70" "5" "122714092" "122714092" "subst" "0.00388535" "01469" "CEP120_000006" "g.122714092G>A" "" "" "" "" "" "Germline" "yes" "rs367600930" "0" "" "" "g.123378398G>A" "" "likely pathogenic" "" "0000089483" "0" "70" "5" "122714049" "122714049" "subst" "0" "01469" "CEP120_000007" "g.122714049A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123378355A>G" "" "likely pathogenic" "" "0000089484" "3" "70" "5" "122758634" "122758639" "delins" "0" "01469" "CEP120_000001" "g.122758634_122758639delinsN[477]" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000089485" "0" "70" "5" "122725734" "122725735" "ins" "0" "01469" "CEP120_000008" "g.122725734_122725735insT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123390040_123390041insT" "" "likely pathogenic" "" "0000089486" "0" "70" "5" "122720762" "122720762" "subst" "2.03422E-5" "01469" "CEP120_000009" "g.122720762G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123385068G>A" "" "likely pathogenic" "" "0000089487" "3" "70" "5" "122682250" "122682250" "subst" "0" "01469" "CEP120_000002" "g.122682250A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123346556A>C" "" "likely pathogenic" "" "0000089488" "0" "70" "5" "122748105" "122748105" "subst" "4.2952E-6" "01469" "CEP120_000003" "g.122748105G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123412411G>A" "" "likely pathogenic" "" "0000089489" "0" "70" "5" "122734847" "122734847" "subst" "3.25842E-5" "01469" "CEP120_000004" "g.122734847C>G" "" "" "" "" "" "Germline" "yes" "rs114280473" "0" "" "" "g.123399153C>G" "" "likely pathogenic" "" "0000523927" "0" "10" "5" "122722370" "122722371" "del" "0" "02326" "CEP120_000011" "g.122722370_122722371del" "" "" "" "CEP120(NM_153223.3):c.1431-11_1431-9delTTAinsT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123386676_123386677del" "" "benign" "" "0000609414" "0" "50" "5" "122714092" "122714092" "subst" "0.00388535" "01943" "CEP120_000006" "g.122714092G>A" "" "" "" "CEP120(NM_001375405.1):c.2134C>T (p.(Leu712Phe)), CEP120(NM_153223.3):c.2134C>T (p.L712F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123378398G>A" "" "VUS" "" "0000621454" "0" "10" "5" "122722392" "122722392" "del" "0" "01943" "CEP120_000012" "g.122722392del" "" "" "" "CEP120(NM_153223.3):c.1431-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123386698del" "" "benign" "" "0000655248" "0" "50" "5" "122714092" "122714092" "subst" "0.00388535" "02327" "CEP120_000006" "g.122714092G>A" "" "" "" "CEP120(NM_001375405.1):c.2134C>T (p.(Leu712Phe)), CEP120(NM_153223.3):c.2134C>T (p.L712F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123378398G>A" "" "VUS" "" "0000655249" "0" "30" "5" "122722392" "122722392" "dup" "0" "01943" "CEP120_000013" "g.122722392dup" "" "" "" "CEP120(NM_153223.3):c.1431-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123386698dup" "" "likely benign" "" "0000720102" "0" "30" "5" "122720737" "122720737" "subst" "0.00210667" "02326" "CEP120_000014" "g.122720737C>T" "" "" "" "CEP120(NM_153223.3):c.1671G>A (p.L557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720103" "0" "50" "5" "122722300" "122722300" "subst" "1.72454E-5" "01943" "CEP120_000015" "g.122722300G>A" "" "" "" "CEP120(NM_153223.3):c.1492C>T (p.R498W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720104" "0" "30" "5" "122722392" "122722392" "dup" "0" "02326" "CEP120_000013" "g.122722392dup" "" "" "" "CEP120(NM_153223.3):c.1431-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720105" "0" "50" "5" "122724223" "122724223" "subst" "9.42909E-5" "01943" "CEP120_000016" "g.122724223T>A" "" "" "" "CEP120(NM_153223.3):c.1333A>T (p.I445F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729852" "3" "90" "5" "122734847" "122734847" "subst" "3.25842E-5" "00000" "CEP120_000004" "g.122734847C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153223.3:c.595G>C:p.(Ala199Pro)" "" "Germline" "" "" "0" "" "" "g.123399153C>G" "" "pathogenic (recessive)" "" "0000729853" "3" "90" "5" "122734847" "122734847" "subst" "3.25842E-5" "00000" "CEP120_000004" "g.122734847C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153223.3:c.595G>C:p.(Ala199Pro)" "" "Germline" "" "" "0" "" "" "g.123399153C>G" "" "pathogenic (recessive)" "" "0000801823" "0" "30" "5" "122714081" "122714081" "subst" "0.000493805" "01943" "CEP120_000017" "g.122714081A>G" "" "" "" "CEP120(NM_153223.3):c.2145T>C (p.T715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801824" "0" "30" "5" "122720737" "122720737" "subst" "0.00210667" "01943" "CEP120_000014" "g.122720737C>T" "" "" "" "CEP120(NM_153223.3):c.1671G>A (p.L557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801825" "0" "30" "5" "122722369" "122722369" "subst" "0" "01943" "CEP120_000018" "g.122722369T>A" "" "" "" "CEP120(NM_153223.3):c.1431-8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801826" "0" "50" "5" "122729136" "122729136" "subst" "0" "02327" "CEP120_000019" "g.122729136T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801827" "0" "50" "5" "122751721" "122751721" "subst" "7.3207E-5" "01943" "CEP120_000020" "g.122751721C>T" "" "" "" "CEP120(NM_153223.3):c.304G>A (p.A102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000845544" "0" "50" "5" "122685705" "122685705" "subst" "3.66417E-5" "00000" "CEP120_000021" "g.122685705C>T" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.2659G>A" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000850738" "0" "30" "5" "122714148" "122714152" "del" "0" "02326" "CEP120_000022" "g.122714148_122714152del" "" "" "" "CEP120(NM_153223.3):c.2104-17_2104-13delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850739" "0" "10" "5" "122714152" "122714152" "dup" "0" "02326" "CEP120_000023" "g.122714152dup" "" "" "" "CEP120(NM_153223.3):c.2104-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850740" "0" "30" "5" "122720788" "122720788" "subst" "8.14266E-6" "01943" "CEP120_000024" "g.122720788C>T" "" "" "" "CEP120(NM_153223.3):c.1620G>A (p.M540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859709" "0" "50" "5" "122722300" "122722300" "subst" "0" "01943" "CEP120_000025" "g.122722300G>C" "" "" "" "CEP120(NM_153223.3):c.1492C>G (p.R498G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859710" "0" "10" "5" "122722391" "122722392" "del" "0" "01943" "CEP120_000026" "g.122722391_122722392del" "" "" "" "CEP120(NM_153223.3):c.1431-11_1431-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859711" "0" "50" "5" "122725693" "122725693" "subst" "0.000674386" "01943" "CEP120_000027" "g.122725693G>A" "" "" "" "CEP120(NM_153223.3):c.1180C>T (p.P394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886547" "0" "30" "5" "122714044" "122714044" "subst" "0.00175615" "02326" "CEP120_000028" "g.122714044T>C" "" "" "" "CEP120(NM_153223.3):c.2182A>G (p.S728G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886548" "0" "30" "5" "122722370" "122722370" "subst" "0" "02326" "CEP120_000029" "g.122722370T>A" "" "" "" "CEP120(NM_153223.3):c.1431-10_1431-9delTAinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924210" "0" "10" "5" "122714152" "122714152" "del" "0" "02326" "CEP120_000030" "g.122714152del" "" "" "" "CEP120(NM_153223.3):c.2104-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928994" "0" "10" "5" "122722392" "122722392" "del" "0" "02326" "CEP120_000012" "g.122722392del" "" "" "" "CEP120(NM_153223.3):c.1431-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948435" "0" "50" "5" "122751742" "122751742" "subst" "0" "01804" "CEP120_000031" "g.122751742T>C" "" "" "" "CEP120(NM_001166226.1):c.205A>G (p.(Ile69Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994582" "0" "30" "5" "122720724" "122720724" "subst" "0.000333501" "01804" "CEP120_000032" "g.122720724T>C" "" "" "" "CEP120(NM_153223.3):c.1684A>G (p.(Thr562Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994583" "0" "50" "5" "122751733" "122751733" "subst" "4.06263E-6" "01804" "CEP120_000033" "g.122751733C>A" "" "" "" "CEP120(NM_153223.3):c.292G>T (p.(Asp98Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994584" "0" "50" "5" "122754149" "122754149" "subst" "0" "01804" "CEP120_000034" "g.122754149T>C" "" "" "" "CEP120(NM_153223.3):c.110A>G (p.(Glu37Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034825" "0" "50" "5" "122700243" "122700243" "subst" "0" "01804" "CEP120_000035" "g.122700243G>A" "" "" "" "CEP120(NM_001375405.1):c.2527C>T (p.(His843Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034826" "0" "30" "5" "122714092" "122714092" "subst" "0.00388535" "01804" "CEP120_000006" "g.122714092G>A" "" "" "" "CEP120(NM_001375405.1):c.2134C>T (p.(Leu712Phe)), CEP120(NM_153223.3):c.2134C>T (p.L712F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034827" "0" "50" "5" "122720648" "122720648" "subst" "5.51212E-5" "01804" "CEP120_000036" "g.122720648T>A" "" "" "" "CEP120(NM_001375405.1):c.1760A>T (p.(Gln587Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034828" "0" "50" "5" "122748153" "122748153" "subst" "4.11641E-6" "01804" "CEP120_000037" "g.122748153C>T" "" "" "" "CEP120(NM_001375405.1):c.403G>A (p.(Asp135Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052064" "0" "50" "5" "122685635" "122685635" "subst" "8.18384E-6" "01804" "CEP120_000038" "g.122685635T>C" "" "" "" "CEP120(NM_001375405.1):c.2726+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052065" "0" "50" "5" "122754192" "122754192" "subst" "8.34745E-6" "01804" "CEP120_000039" "g.122754192G>A" "" "" "" "CEP120(NM_001375405.1):c.67C>T (p.(Arg23Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052066" "0" "50" "5" "122758727" "122758727" "subst" "0" "01804" "CEP120_000040" "g.122758727G>C" "" "" "" "CEP120(NM_153223.4):c.-32-3C>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 CEP120 ## Count = 47 "{{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}}" "0000089481" "00004995" "70" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Val194Ala)" "6" "0000089482" "00004995" "70" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Leu712Phe)" "16" "0000089483" "00004995" "70" "2177" "0" "2177" "0" "c.2177T>C" "r.(?)" "p.(Leu726Pro)" "16" "0000089484" "00004995" "70" "49" "5" "49" "10" "c.49+5_49+10delins(477)" "r.spl?" "p.?" "2i" "0000089485" "00004995" "70" "1138" "0" "1139" "0" "c.1138_1139insA" "r.(?)" "p.(Ser380Tyrfs*19)" "9" "0000089486" "00004995" "70" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ala549Val)" "12" "0000089487" "00004995" "70" "2924" "0" "2924" "0" "c.2924T>G" "r.(?)" "p.(Ile975Ser)" "21" "0000089488" "00004995" "70" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151*)" "5" "0000089489" "00004995" "70" "595" "0" "595" "0" "c.595G>C" "r.(?)" "p.(Ala199Pro)" "6" "0000523927" "00004995" "10" "1431" "-10" "1431" "-9" "c.1431-10_1431-9del" "r.(=)" "p.(=)" "" "0000609414" "00004995" "50" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Leu712Phe)" "" "0000621454" "00004995" "10" "1431" "-10" "1431" "-10" "c.1431-10del" "r.(=)" "p.(=)" "" "0000655248" "00004995" "50" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Leu712Phe)" "" "0000655249" "00004995" "30" "1431" "-10" "1431" "-10" "c.1431-10dup" "r.(=)" "p.(=)" "" "0000720102" "00004995" "30" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(Leu557=)" "" "0000720103" "00004995" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" "0000720104" "00004995" "30" "1431" "-10" "1431" "-10" "c.1431-10dup" "r.(=)" "p.(=)" "" "0000720105" "00004995" "50" "1333" "0" "1333" "0" "c.1333A>T" "r.(?)" "p.(Ile445Phe)" "" "0000729852" "00004995" "90" "595" "0" "595" "0" "c.595G>C" "r.(?)" "p.(Ala199Pro)" "" "0000729853" "00004995" "90" "595" "0" "595" "0" "c.595G>C" "r.(?)" "p.(Ala199Pro)" "" "0000801823" "00004995" "30" "2145" "0" "2145" "0" "c.2145T>C" "r.(?)" "p.(Thr715=)" "" "0000801824" "00004995" "30" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(Leu557=)" "" "0000801825" "00004995" "30" "1431" "-8" "1431" "-8" "c.1431-8A>T" "r.(=)" "p.(=)" "" "0000801826" "00004995" "50" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Tyr223Cys)" "" "0000801827" "00004995" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Ala102Thr)" "" "0000845544" "00004995" "50" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Ala887Thr)" "20" "0000850738" "00004995" "30" "2104" "-17" "2104" "-13" "c.2104-17_2104-13del" "r.(=)" "p.(=)" "" "0000850739" "00004995" "10" "2104" "-13" "2104" "-13" "c.2104-13dup" "r.(=)" "p.(=)" "" "0000850740" "00004995" "30" "1620" "0" "1620" "0" "c.1620G>A" "r.(?)" "p.(Met540Ile)" "" "0000859709" "00004995" "50" "1492" "0" "1492" "0" "c.1492C>G" "r.(?)" "p.(Arg498Gly)" "" "0000859710" "00004995" "10" "1431" "-11" "1431" "-10" "c.1431-11_1431-10del" "r.(=)" "p.(=)" "" "0000859711" "00004995" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Pro394Ser)" "" "0000886547" "00004995" "30" "2182" "0" "2182" "0" "c.2182A>G" "r.(?)" "p.(Ser728Gly)" "" "0000886548" "00004995" "30" "1431" "-9" "1431" "-9" "c.1431-9A>T" "r.(=)" "p.(=)" "" "0000924210" "00004995" "10" "2104" "-13" "2104" "-13" "c.2104-13del" "r.(=)" "p.(=)" "" "0000928994" "00004995" "10" "1431" "-10" "1431" "-10" "c.1431-10del" "r.(=)" "p.(=)" "" "0000948435" "00004995" "50" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Ile95Val)" "" "0000994582" "00004995" "30" "1684" "0" "1684" "0" "c.1684A>G" "r.(?)" "p.(Thr562Ala)" "" "0000994583" "00004995" "50" "292" "0" "292" "0" "c.292G>T" "r.(?)" "p.(Asp98Tyr)" "" "0000994584" "00004995" "50" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Glu37Gly)" "" "0001034825" "00004995" "50" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(His843Tyr)" "" "0001034826" "00004995" "30" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Leu712Phe)" "" "0001034827" "00004995" "50" "1760" "0" "1760" "0" "c.1760A>T" "r.(?)" "p.(Gln587Leu)" "" "0001034828" "00004995" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "" "0001052064" "00004995" "50" "2726" "3" "2726" "3" "c.2726+3A>G" "r.spl?" "p.?" "" "0001052065" "00004995" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" "" "0001052066" "00004995" "50" "-32" "-3" "-32" "-3" "c.-32-3C>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000058794" "0000089481" "0000058795" "0000089482" "0000058795" "0000089483" "0000058796" "0000089484" "0000058797" "0000089485" "0000058797" "0000089486" "0000058798" "0000089487" "0000058799" "0000089488" "0000058799" "0000089489" "0000332570" "0000729852" "0000332571" "0000729853" "0000408606" "0000845544"