### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC66) # 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}}" "CCDC66" "coiled-coil domain containing 66" "3" "p14.3" "unknown" "NC_000003.11" "UD_139396865757" "" "http://www.LOVD.nl/CCDC66" "" "1" "27709" "285331" "619287" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/CCDC66_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2014-05-29 00:00:00" "00006" "2024-02-23 18:06:57" "00000" "2025-05-05 21:14:00" ## 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}}" "00023944" "CCDC66" "transcript variant 1" "001" "NM_001141947.1" "" "NP_001135419.1" "" "" "" "-87" "3065" "2847" "56557156" "56621836" "00006" "2014-05-29 09:39:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04189" "NPHPRC" "nephronophthisis-related ciliopathy (NPHP-RC)" "" "" "" "" "" "00006" "2015-02-14 16:29:28" "00006" "2021-12-11 13:56:28" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC66" "05323" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00016586" "" "" "" "1" "" "00705" "{PMID:Xia 2014:24791903}" "2-generation family, 1 affected" "F" "no" "(United States)" "" "0" "" "" "European" "" "00032320" "" "" "" "1" "" "00006" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "patient, unaffected heterozygous carrier parents" "?" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00408864" "" "" "" "1" "" "00000" "{PMID:Khan-2018:28369829}" "" "F" "" "" "" "0" "" "" "Arab" "II:1" "00448242" "" "" "" "7" "" "00006" "{PMID:Chen 2024:37852749}" "5-generation family, 7 affected (5F, 2M), 1 unaffected carrier" "F;M" "yes" "China" "" "0" "" "" "" "FamFR3" "00448243" "" "" "" "1" "" "00006" "{PMID:Chen 2024:37852749}" "" "F" "" "China" "" "0" "" "" "" "M21236" "00448244" "" "" "" "1" "" "00006" "{PMID:Chen 2024:37852749}" "" "F" "" "China" "" "0" "" "" "" "M34779" "00448245" "" "" "" "1" "" "00006" "{PMID:Chen 2024:37852749}" "" "M" "" "China" "" "0" "" "" "" "M21310" "00448246" "" "" "" "1" "" "00006" "{PMID:Chen 2024:37852749}" "" "F" "" "China" "" "0" "" "" "" "M23440" "00448247" "" "" "" "1" "" "00006" "{PMID:Chen 2024:37852749}" "" "F" "" "China" "" "0" "" "" "" "M23390" "00448248" "" "" "" "1" "" "00006" "{PMID:Chen 2024:37852749}" "" "F" "" "China" "" "0" "" "" "" "M31217" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00016586" "00198" "00032320" "04189" "00408864" "04214" "00448242" "05323" "00448243" "05323" "00448244" "05323" "00448245" "05323" "00448246" "05323" "00448247" "05323" "00448248" "05323" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04189, 04214, 05323 ## Count = 10 "{{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}}" "0000015212" "00198" "00016586" "00705" "Isolated (sporadic)" "01y06m" "18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea" "" "" "" "" "" "" "" "" "" "" "" "0000025786" "04189" "00032320" "00006" "Isolated (sporadic)" "" "see paper; 11m-hepatic fibrosis; 14y-end-stage renal disease (ESRD) from NPHP; ..." "" "" "" "" "" "" "" "" "" "" "" "0000300982" "04214" "00408864" "00000" "Familial, autosomal recessive" "13y" "13y: 4/200 vision in either eye, eccentric fixation, moderate exotropia, and pendular nystagmus with small amplitude and high frequency. Cycloplegic refraction was +6.00, +6.00. Depressed and delayed rod response and cone responses, more so of cones than rods" "" "" "worsening visual acuity since early childhood" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000337452" "05323" "00448242" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" "0000337453" "05323" "00448243" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" "0000337454" "05323" "00448244" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" "0000337455" "05323" "00448245" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" "0000337456" "05323" "00448246" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" "0000337457" "05323" "00448247" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" "0000337458" "05323" "00448248" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016538" "00016586" "1" "00705" "00705" "2014-05-09 14:01:36" "00006" "2014-05-29 09:45:01" "SEQ" "DNA" "" "" "0000032387" "00032320" "1" "00006" "00006" "2015-02-14 16:36:07" "00006" "2015-02-14 17:05:21" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000410129" "00408864" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES, Targeted NGS" "0000449817" "00448242" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449818" "00448243" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ" "DNA" "" "" "0000449819" "00448244" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ" "DNA" "" "" "0000449820" "00448245" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ" "DNA" "" "" "0000449821" "00448246" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ" "DNA" "" "" "0000449822" "00448247" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ" "DNA" "" "" "0000449823" "00448248" "1" "00006" "00006" "2024-02-23 18:06:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000016538" "AHDC1" "0000016538" "CALY" "0000016538" "CCDC66" "0000016538" "PTPRB" "0000016538" "TBCK" "0000032387" "BIRC6" "0000032387" "CCDC66" "0000032387" "CLDN16" "0000032387" "DCDC2" "0000032387" "TATDN3" "0000410129" "NMNAT1" "0000449817" "CCDC66" "0000449818" "CCDC66" "0000449819" "CCDC66" "0000449820" "CCDC66" "0000449821" "CCDC66" "0000449822" "CCDC66" "0000449823" "CCDC66" ## 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 = 18 "{{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}}" "0000036676" "0" "35" "3" "56627543" "56627543" "dup" "0" "00006" "CCDC66_000001" "g.56627543dup" "" "{PMID:Xia 2014:24791903}" "" "" "not associated to phenotype" "De novo" "" "" "0" "" "" "g.56593515dup" "" "likely benign" "" "0000058469" "3" "30" "3" "56650056" "56650057" "ins" "0" "00006" "CCDC66_000002" "g.56650056_56650057insCCT" "" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "" "56650056->CTC" "" "Germline" "" "" "0" "" "" "g.56616028_56616029insCCT" "" "likely benign" "" "0000520471" "0" "50" "3" "56696435" "56696435" "subst" "0" "01943" "CCDC66_000006" "g.56696435G>A" "" "" "" "FAM208A(NM_001112736.1):c.1138C>T (p.R380C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56662407G>A" "" "VUS" "" "0000608833" "0" "30" "3" "56591297" "56591298" "ins" "0.00035271" "01804" "CCDC66_000007" "g.56591297_56591298insAGGGGTAAGCTGGGGTAAGC" "" "" "" "CCDC66(NM_001141947.1):c.11+7_11+8insGGGGTAAGCAGGGGTAAGCT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56557269_56557270insAGGGGTAAGCTGGGGTAAGC" "" "likely benign" "" "0000608834" "0" "30" "3" "56667841" "56667841" "subst" "0" "01804" "CCDC66_000008" "g.56667841A>G" "" "" "" "FAM208A(NM_001112736.1):c.2978T>C (p.(Val993Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56633813A>G" "" "likely benign" "" "0000847390" "3" "30" "3" "56653818" "56653818" "del" "0" "00000" "CCDC66_000009" "g.56653818del" "" "" "" "c.2649delA (p.Lys883Asnfs*20)" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000859111" "0" "50" "3" "56658614" "56658614" "subst" "0.000199223" "01943" "CCDC66_000010" "g.56658614G>A" "" "" "" "FAM208A(NM_015224.3):c.3065C>T (p.(Ala1022Val)), TASOR(NM_001365637.1):c.4253C>T (p.A1418V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960316" "1" "70" "3" "56597781" "56597781" "subst" "6.5421E-6" "00006" "CCDC66_000011" "g.56597781C>T" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56563753C>T" "" "likely pathogenic (dominant)" "" "0000960317" "0" "70" "3" "56597891" "56597891" "subst" "0" "00006" "CCDC66_000012" "g.56597891T>G" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56563863T>G" "" "VUS" "" "0000960318" "0" "70" "3" "56597970" "56597970" "subst" "2.43879E-5" "00006" "CCDC66_000013" "g.56597970A>G" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56563942A>G" "" "VUS" "" "0000960319" "0" "70" "3" "56627612" "56627612" "subst" "0" "00006" "CCDC66_000014" "g.56627612C>T" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56593584C>T" "" "VUS" "" "0000960320" "0" "70" "3" "56647707" "56647707" "subst" "3.25227E-5" "00006" "CCDC66_000015" "g.56647707C>T" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56613679C>T" "" "VUS" "" "0000960321" "0" "70" "3" "56649247" "56649247" "subst" "5.69129E-5" "00006" "CCDC66_000016" "g.56649247G>A" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56615219G>A" "" "VUS" "" "0000960322" "0" "70" "3" "56653327" "56653327" "subst" "1.64559E-5" "00006" "CCDC66_000017" "g.56653327A>G" "" "{PMID:Chen 2024:37852749}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56619299A>G" "" "VUS" "" "0000993837" "0" "30" "3" "56597766" "56597766" "subst" "1.3107E-5" "01804" "CCDC66_000018" "g.56597766A>T" "" "" "" "CCDC66(NM_001141947.1):c.157A>T (p.(Ile53Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993838" "0" "30" "3" "56658549" "56658549" "subst" "0" "01804" "CCDC66_000019" "g.56658549G>A" "" "" "" "FAM208A(NM_015224.3):c.3130C>T (p.(Leu1044Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993839" "0" "30" "3" "56658614" "56658614" "subst" "0.000199223" "01804" "CCDC66_000010" "g.56658614G>A" "" "" "" "FAM208A(NM_015224.3):c.3065C>T (p.(Ala1022Val)), TASOR(NM_001365637.1):c.4253C>T (p.A1418V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034103" "0" "50" "3" "56716992" "56716992" "subst" "0.00067979" "01804" "CCDC66_000020" "g.56716992C>T" "" "" "" "TASOR(NM_001365635.2):c.43G>A (p.(Ala15Thr))" "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 CCDC66 ## Count = 18 "{{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}}" "0000036676" "00023944" "35" "1093" "0" "1093" "0" "c.1093dup" "r.(?)" "p.(Met365Asnfs*4)" "9" "0000058469" "00023944" "30" "1818" "0" "1819" "0" "c.1818_1819insCCT" "r.(?)" "p.(Ser606_Lys607insPro)" "" "0000520471" "00023944" "50" "43636" "0" "43636" "0" "c.*40789G>A" "r.(=)" "p.(=)" "" "0000608833" "00023944" "30" "11" "16" "11" "17" "c.11+16_11+17insAGGGGTAAGCTGGGGTAAGC" "r.(=)" "p.(=)" "" "0000608834" "00023944" "30" "15042" "0" "15042" "0" "c.*12195A>G" "r.(=)" "p.(=)" "" "0000847390" "00023944" "30" "2649" "0" "2649" "0" "c.2649del" "r.(?)" "p.(Lys883Asnfs*20)" "" "0000859111" "00023944" "50" "5815" "0" "5815" "0" "c.*2968G>A" "r.(=)" "p.(=)" "" "0000960316" "00023944" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58Ter)" "" "0000960317" "00023944" "70" "282" "0" "282" "0" "c.282T>G" "r.(?)" "p.(Asp94Glu)" "" "0000960318" "00023944" "70" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Thr121Ala)" "" "0000960319" "00023944" "70" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388Ter)" "" "0000960320" "00023944" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Cys)" "" "0000960321" "00023944" "70" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Arg553Gln)" "" "0000960322" "00023944" "70" "2407" "0" "2407" "0" "c.2407A>G" "r.(?)" "p.(Lys803Glu)" "" "0000993837" "00023944" "30" "157" "0" "157" "0" "c.157A>T" "r.(?)" "p.(Ile53Phe)" "" "0000993838" "00023944" "30" "5750" "0" "5750" "0" "c.*2903G>A" "r.(=)" "p.(=)" "" "0000993839" "00023944" "30" "5815" "0" "5815" "0" "c.*2968G>A" "r.(=)" "p.(=)" "" "0001034103" "00023944" "50" "64193" "0" "64193" "0" "c.*61346C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000016538" "0000036676" "0000032387" "0000058469" "0000410129" "0000847390" "0000449817" "0000960316" "0000449818" "0000960317" "0000449819" "0000960318" "0000449820" "0000960319" "0000449821" "0000960320" "0000449822" "0000960321" "0000449823" "0000960322"