### 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" "00006" "2026-07-07 13:38:22" ## 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 = 7 "{{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" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "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 = 6 "{{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" "00480771" "" "" "" "155" "" "03948" "" "" "F" "no" "France" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00403090" "00201" "00403110" "05562" "00454558" "05370" "00457985" "05895" "00457986" "05895" "00480771" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04187, 05370, 05562, 05895, 06302, 07136 ## Count = 5 "{{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/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" "0000365054" "04187" "00480771" "03948" "Unknown" "" ", POI at 27 yeras( secondary amenorrhea), Unexplained secondary infertility, previous ectopic pregnancy, miscarriage, molar pregnancy, and sister with POI" "27" "" "" "" "" "" "" "POI" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{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" "0000482417" "00480771" "1" "03948" "03948" "2026-07-06 17:05:36" "" "" "SEQ-NG" "DNA" "bLOOD" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000404331" "MEIOB" "0000456171" "MEIOB" "0000459606" "MEIOB" "0000482417" "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 = 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}}" "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" "" "0001066342" "0" "30" "16" "1889330" "1889330" "subst" "0" "02325" "FAHD1_000005" "g.1889330G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001079561" "0" "70" "16" "1894917" "1894917" "subst" "1.25842E-5" "03948" "MEIOB_000005" "g.1894917C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.1844916C>A" "" "likely pathogenic (recessive)" "ACMG" "0001079562" "0" "70" "16" "1891950" "1891950" "subst" "0" "03948" "MEIOB_000004" "g.1891950G>A" "" "" "" "" "in presumed HZC with MEIOB c.826G>T" "Germline" "?" "" "0" "" "" "g.1841949G>A" "" "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 = 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}}" "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)" "" "0001066342" "00025694" "30" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(=)" "" "0001079561" "00025694" "70" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Glu276Ter)" "" "0001079562" "00025694" "70" "905" "0" "905" "0" "c.905C>T" "r.?" "p.(Thr302Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000404331" "0000840001" "0000404351" "0000840033" "0000456171" "0001008353" "0000459605" "0001017676" "0000459606" "0001017677" "0000482417" "0001079561" "0000482417" "0001079562"