### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARMC12) # 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}}" "ARMC12" "armadillo repeat containing 12" "6" "p21.31" "unknown" "NC_000006.11" "UD_136021928019" "" "https://www.LOVD.nl/ARMC12" "" "1" "21099" "221481" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-30 17:07:35" "00006" "2023-01-30 17:06:50" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00002885" "ARMC12" "armadillo repeat containing 12" "001" "NM_145028.3" "" "NP_659465.2" "" "" "" "-27" "1142" "1104" "35704859" "35716685" "" "0000-00-00 00:00:00" "" "" "00025804" "ARMC12" "transcript variant 2" "000" "NM_001286574.2" "" "NP_001273503.1" "" "" "" "-77" "1232" "1023" "35704809" "35716856" "00006" "2023-01-30 16:55:53" "" "" ## 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}}" "ARMC12" "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}}" "00431149" "" "" "" "2" "" "00006" "{PMID:Liu 2023:35534203}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "Fam1PatII1/3" "00431150" "" "" "" "1" "" "00006" "{PMID:Liu 2023:35534203}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "FamW0031" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00431149" "00201" "00431150" "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}}" "0000321757" "00201" "00431149" "00006" "Familial, autosomal recessive" "" "see paper; ..., asthenozoospermia, midpiece defects" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" "0000321758" "00201" "00431150" "00006" "Familial, autosomal recessive" "" "see paper; ..., asthenozoospermia, midpiece defects" "" "" "" "" "" "" "" "" "asthenozoospermia" ## 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}}" "0000432560" "00431149" "1" "00006" "00006" "2023-01-30 16:59:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432561" "00431150" "1" "00006" "00006" "2023-01-30 17:03:46" "" "" "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 = 3 "{{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}}" "0000918093" "3" "90" "6" "35715369" "35715369" "subst" "1.62447E-5" "00006" "ARMC12_000001" "g.35715369T>C" "" "{PMID:Liu 2023:35534203}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35747592T>C" "" "pathogenic (recessive)" "" "0000918094" "11" "90" "6" "35715420" "35715420" "subst" "0.000101572" "00006" "ARMC12_000002" "g.35715420G>A" "" "{PMID:Liu 2023:35534203}" "" "" "" "Germline" "" "" "0" "" "" "g.35747643G>A" "" "pathogenic (recessive)" "" "0000918095" "21" "90" "6" "35715366" "35715366" "subst" "0" "00006" "ARMC12_000003" "g.35715366G>A" "" "{PMID:Liu 2023:35534203}" "" "" "" "Germline" "" "" "0" "" "" "g.35747589G>A" "" "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 ARMC12 ## Count = 3 "{{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}}" "0000918093" "00025804" "90" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.(Leu212Pro)" "" "0000918094" "00025804" "90" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Cys229Tyr)" "" "0000918095" "00025804" "90" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000432560" "0000918093" "0000432561" "0000918094" "0000432561" "0000918095"