### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC34) # 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}}" "CCDC34" "coiled-coil domain containing 34" "11" "p14.1" "unknown" "NC_000011.9" "UD_132319447315" "" "https://www.LOVD.nl/CCDC34" "" "1" "25079" "91057" "612324" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CCDC34_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-06-27 16:41:05" "00006" "2022-06-27 16:58:21" ## 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}}" "00004472" "CCDC34" "transcript variant 1" "001" "NM_030771.1" "" "NP_110398.1" "" "" "" "-54" "1429" "1122" "27384795" "27360061" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC34" "00201" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00412329" "" "" "" "1" "" "00006" "{PMID:Cong 2022:34348960}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "FamY003PatII1" "00412330" "" "" "" "1" "" "00006" "{PMID:Cong 2022:34348960}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Iran" "" "0" "" "" "" "FamP231PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00412329" "00201" "00412330" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201 ## Count = 2 "{{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}}" "0000304334" "00201" "00412329" "00006" "Familial, autosomal recessive" "" "see paper; ..., morphological abnormalities of the sperm flagella" "" "" "" "" "" "" "" "" "oligoasthenoteratozoospermia" "0000304335" "00201" "00412330" "00006" "Familial, autosomal recessive" "" "see paper; ..., morphological abnormalities of the sperm flagella" "" "" "" "" "" "" "" "" "oligoasthenoteratozoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000413601" "00412329" "1" "00006" "00006" "2022-06-27 16:57:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413602" "00412330" "1" "00006" "00006" "2022-06-27 16:57:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 5 "{{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}}" "0000269845" "0" "70" "11" "27384741" "27384741" "subst" "0.000365256" "02326" "CCDC34_000001" "g.27384741T>C" "" "" "" "CCDC34(NM_030771.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27363194T>C" "" "likely pathogenic" "" "0000679163" "0" "30" "11" "27389739" "27389739" "subst" "0.0124752" "01804" "CCDC34_000002" "g.27389739T>C" "" "" "" "LGR4(NM_018490.2):c.2531A>G (p.(Asp844Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723387" "0" "50" "11" "27389686" "27389686" "subst" "6.50015E-5" "01943" "CCDC34_000003" "g.27389686C>T" "" "" "" "LGR4(NM_018490.3):c.2584G>A (p.E862K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871110" "3" "90" "11" "27362980" "27362980" "dup" "0" "00006" "CCDC34_000005" "g.27362980dup" "" "{PMID:Cong 2022:34348960}" "" "" "" "Germline" "" "" "0" "" "" "g.27341433dup" "" "pathogenic (recessive)" "" "0000871111" "3" "90" "11" "27362336" "27362354" "del" "0" "00006" "CCDC34_000004" "g.27362336_27362354del" "" "{PMID:Cong 2022:34348960}" "" "" "" "Germline" "" "" "0" "" "" "g.27340789_27340807del" "" "pathogenic (recessive)" "" ## 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 CCDC34 ## Count = 5 "{{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}}" "0000269845" "00004472" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000679163" "00004472" "30" "-4998" "0" "-4998" "0" "c.-4998A>G" "r.(?)" "p.(=)" "" "0000723387" "00004472" "50" "-4945" "0" "-4945" "0" "c.-4945G>A" "r.(?)" "p.(=)" "" "0000871110" "00004472" "90" "731" "0" "731" "0" "c.731dup" "r.(?)" "p.(Asn244LysfsTer3)" "" "0000871111" "00004472" "90" "799" "0" "817" "0" "c.799_817del" "r.(?)" "p.(Glu267LysfsTer72)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000413601" "0000871110" "0000413602" "0000871111"