### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARMC2) # 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}}" "ARMC2" "armadillo repeat containing 2" "6" "q21" "unknown" "NC_000006.11" "UD_136082128167" "" "https://www.LOVD.nl/ARMC2" "" "1" "23045" "84071" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ARMC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-13 21:52:22" "00000" "2026-01-20 18:57:21" ## 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}}" "00002876" "ARMC2" "armadillo repeat containing 2" "001" "NM_032131.4" "" "NP_115507.4" "" "" "" "-174" "3239" "2604" "109169619" "109295352" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06719" "SPGF38" "Spermatogenic failure 38" "AR" "618433" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ARMC2" "06719" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00222959" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "Tunisia" "" "0" "" "" "" "30686508-Pat1" "00222960" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "Tunisia" "" "0" "" "" "" "30686508-Pat2" "00222961" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "Tunisia" "" "0" "" "" "" "30686508-Pat3" "00222962" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "Tunisia" "" "0" "" "" "" "30686508-Pat4" "00222963" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "30686508-FamPatIV2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00222959" "05562" "00222960" "05562" "00222961" "05562" "00222962" "05562" "00222963" "05562" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05562, 06719 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000168074" "05562" "00222959" "00006" "Familial, autosomal recessive" "" "see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male infertility" "0000168075" "05562" "00222960" "00006" "Familial, autosomal recessive" "" "see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male infertility" "0000168076" "05562" "00222961" "00006" "Familial, autosomal recessive" "" "see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male infertility" "0000168077" "05562" "00222962" "00006" "Familial, autosomal recessive" "" "see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male infertility" "0000168078" "05562" "00222963" "00006" "Familial, autosomal recessive" "" "see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000224034" "00222959" "1" "00006" "00006" "2019-02-13 22:08:14" "00006" "2019-02-13 22:12:37" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000224035" "00222960" "1" "00006" "00006" "2019-02-13 22:14:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000224036" "00222961" "1" "00006" "00006" "2019-02-13 22:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000224037" "00222962" "1" "00006" "00006" "2019-02-13 22:20:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000224038" "00222963" "1" "00006" "00006" "2019-02-13 22:27:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000224034" "ARMC2" "0000224035" "ARMC2" "0000224036" "ARMC2" "0000224037" "ARMC2" "0000224038" "ARMC2" ## 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 = 11 "{{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}}" "0000456087" "3" "90" "6" "109225609" "109225609" "subst" "0" "00006" "ARMC2_000001" "g.109225609G>A" "1/167 cases" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "" "" "0" "" "" "g.108904406G>A" "" "pathogenic (recessive)" "" "0000456088" "3" "90" "6" "109285509" "109285509" "subst" "0" "00006" "ARMC2_000002" "g.109285509T>A" "1/167 cases" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "" "" "0" "" "" "g.108964306T>A" "" "pathogenic (recessive)" "" "0000456089" "3" "90" "6" "109286250" "109286251" "del" "0" "00006" "ARMC2_000003" "g.109286250_109286251del" "1/167 cases" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "2353_2354delTT" "" "Germline" "" "" "0" "" "" "g.108965047_108965048del" "" "pathogenic (recessive)" "" "0000456090" "3" "90" "6" "109233695" "109233699" "del" "0" "00006" "ARMC2_000004" "g.109233695_109233699del" "1/167 cases" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "1284_1288delACAAA" "" "Germline" "" "" "0" "" "" "g.108912492_108912496del" "" "pathogenic (recessive)" "" "0000456091" "3" "90" "6" "109190156" "109190156" "subst" "0" "00006" "ARMC2_000005" "g.109190156C>T" "" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108868953C>T" "" "pathogenic (recessive)" "" "0000720621" "0" "90" "6" "109258203" "109258203" "subst" "0" "02329" "ARMC2_000006" "g.109258203G>C" "" "" "" "ARMC2(NM_032131.6):c.1596+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886981" "0" "30" "6" "109274497" "109274497" "subst" "0.000579287" "02326" "ARMC2_000007" "g.109274497G>A" "" "" "" "ARMC2(NM_032131.6):c.1858G>A (p.V620M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995241" "0" "90" "6" "109220944" "109220944" "del" "4.06441E-6" "02327" "ARMC2_000008" "g.109220944del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035399" "0" "50" "6" "109220944" "109220944" "subst" "0.000178841" "01804" "ARMC2_000009" "g.109220944G>A" "" "" "" "ARMC2(NM_032131.6):c.796G>A (p.(Glu266Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064608" "0" "50" "6" "109232159" "109232159" "subst" "0" "01804" "ARMC2_000010" "g.109232159A>G" "" "" "" "ARMC2(NM_032131.6):c.1081A>G (p.(Arg361Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064609" "0" "30" "6" "109283294" "109283294" "subst" "0" "01804" "ARMC2_000011" "g.109283294G>C" "" "" "" "ARMC2(NM_032131.6):c.2116G>C (p.(Asp706His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ARMC2 ## Count = 11 "{{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}}" "0000456087" "00002876" "90" "1023" "1" "1023" "1" "c.1023+1G>A" "r.848_1023del" "p.Glu283Alafs*2" "8i" "0000456088" "00002876" "90" "2279" "0" "2279" "0" "c.2279T>A" "r.(?)" "p.(Ile760Asn)" "" "0000456089" "00002876" "90" "2353" "0" "2354" "0" "c.2353_2354del" "r.(?)" "p.(Leu785Metfs*5)" "" "0000456090" "00002876" "90" "1284" "0" "1288" "0" "c.1284_1288del" "r.(?)" "p.(Lys428Asnfs*3)" "" "0000456091" "00002876" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000720621" "00002876" "90" "1596" "1" "1596" "1" "c.1596+1G>C" "r.spl?" "p.?" "" "0000886981" "00002876" "30" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Val620Met)" "" "0000995241" "00002876" "90" "796" "0" "796" "0" "c.796del" "r.(?)" "p.(Glu266Lysfs*15)" "" "0001035399" "00002876" "50" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Glu266Lys)" "" "0001064608" "00002876" "50" "1081" "0" "1081" "0" "c.1081A>G" "r.(?)" "p.(Arg361Gly)" "" "0001064609" "00002876" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Asp706His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000224034" "0000456087" "0000224035" "0000456088" "0000224036" "0000456089" "0000224037" "0000456090" "0000224038" "0000456091"