### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MEIOB) # 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}}" "MEIOB" "meiosis specific with OB domains" "16" "p13.3" "unknown" "NC_000016.9" "UD_136016816740" "" "https://www.LOVD.nl/MEIOB" "" "1" "28569" "254528" "617670" "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/MEIOB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 21:47:11" "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}}" "00025694" "MEIOB" "transcript variant 1" "001" "NM_001163560.2" "" "NP_001157032.1" "" "" "" "-195" "1689" "1416" "1922179" "1883984" "00006" "2022-02-16 21:47:39" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" "06302" "SPGF22" "?Spermatogenic failure 22" "AR" "617706" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07136" "POF23" "ovarian failure, premature, type 23" "AR" "620686" "" "" "" "00006" "2024-11-24 14:34:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MEIOB" "05562" "MEIOB" "06302" "MEIOB" "07136" ## 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}}" "00403090" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Algeria" "" "0" "" "" "" "P0074" "00403110" "" "" "" "4" "" "00006" "{PMID:Gershoni 2017:28206990}" "2-generation family, 4 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "Muslim;Arab" "FamA" "00454558" "" "" "" "1" "" "00764" "" "" "F" "" "Egypt" "" "0" "" "" "" "" "00457985" "" "" "" "3" "" "00006" "{PMID:Wu 2022:34392356}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "PK-INF-602PatIV4" "00457986" "" "" "00457985" "2" "" "00006" "{PMID:Wu 2022:34392356}" "2 brothers" "M" "yes" "Pakistan" "" "0" "" "" "" "PK-INF-602PatIV5/6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00403090" "00201" "00403110" "05562" "00454558" "05370" "00457985" "05895" "00457986" "05895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 05370, 05562, 05895, 06302, 07136 ## Count = 4 "{{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}}" "0000295837" "00201" "00403090" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; FSH 2.16 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000295857" "05562" "00403110" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "SPGF22" "azoospermia" "0000346435" "05895" "00457985" "00006" "Familial, autosomal recessive" "" "see paper; ..., unexplained primary infertility, regular menstrual cycle" "" "" "" "" "" "" "" "POF23" "primary infertility" "0000346436" "05895" "00457986" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-obstructive azoospermia" "" "" "" "" "" "" "" "SPGF22" "primary 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}}" "0000404331" "00403090" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404351" "00403110" "1" "00006" "00006" "2022-02-16 21:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456171" "00454558" "1" "00764" "00764" "2024-09-14 03:39:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000459605" "00457985" "1" "00006" "00006" "2024-11-24 14:26:16" "00006" "2024-11-24 14:39:58" "SEQ-NG" "DNA" "" "WES" "0000459606" "00457986" "1" "00006" "00006" "2024-11-24 14:38:35" "00006" "2024-11-24 14:40:41" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000404331" "MEIOB" "0000456171" "MEIOB" "0000459606" "MEIOB" ## 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 = 8 "{{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}}" "0000840001" "3" "90" "16" "1889356" "1889359" "del" "0" "00006" "FAHD1_000001" "g.1889356_1889359del" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_001163560.3:c.1118_1121del" "" "Germline" "" "" "0" "" "" "g.1839355_1839358del" "" "pathogenic (recessive)" "" "0000840033" "3" "70" "16" "1912054" "1912054" "subst" "0" "00006" "MEIOB_000001" "g.1912054T>A" "" "{PMID:Gershoni 2017:28206990}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000950532" "0" "30" "16" "1903140" "1903140" "subst" "0" "02325" "FAHD1_000002" "g.1903140T>G" "" "" "" "MEIOB(NM_001163560.3):c.683-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008353" "3" "70" "16" "1894929" "1894929" "subst" "1.26907E-5" "00764" "MEIOB_000002" "g.1894929G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1844928G>A" "" "pathogenic" "ACMG" "0001017676" "3" "90" "16" "1903136" "1903136" "subst" "8.33521E-6" "00006" "MEIOB_000003" "g.1903136C>T" "" "{PMID:Wu 2022:34392356}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1853135C>T" "" "pathogenic (recessive)" "" "0001017677" "3" "90" "16" "1903136" "1903136" "subst" "8.33521E-6" "00006" "MEIOB_000003" "g.1903136C>T" "" "{PMID:Wu 2022:34392356}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1853135C>T" "" "pathogenic (recessive)" "" "0001026581" "0" "50" "16" "1912069" "1912069" "subst" "0.000462467" "02325" "FAHD1_000003" "g.1912069G>A" "" "" "" "MEIOB(NM_001163560.3):c.176C>T (p.P59L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040862" "0" "50" "16" "1891830" "1891830" "subst" "2.25357E-5" "02325" "FAHD1_000004" "g.1891830C>T" "" "" "" "MEIOB(NM_001163560.3):c.1025G>A (p.R342Q)" "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 MEIOB ## Count = 8 "{{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}}" "0000840001" "00025694" "90" "1118" "0" "1121" "0" "c.1118_1121del" "r.(?)" "p.(Phe373Serfs*6)" "" "0000840033" "00025694" "70" "191" "0" "191" "0" "c.191A>T" "r.(?)" "p.(Asn64Ile)" "" "0000950532" "00025694" "30" "683" "-5" "683" "-5" "c.683-5A>C" "r.spl?" "p.?" "" "0001008353" "00025694" "70" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272*)" "" "0001017676" "00025694" "90" "683" "-1" "683" "-1" "c.683-1G>A" "r.(683_778del)" "p.(Val228_Pro259del)" "8i" "0001017677" "00025694" "90" "683" "-1" "683" "-1" "c.683-1G>A" "r.683_778del" "p.Val228_Pro259del" "8i" "0001026581" "00025694" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" "" "0001040862" "00025694" "50" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000404331" "0000840001" "0000404351" "0000840033" "0000456171" "0001008353" "0000459605" "0001017676" "0000459606" "0001017677"