### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MNS1) # 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}}" "MNS1" "meiosis-specific nuclear structural 1" "15" "q21.3" "unknown" "NC_000015.9" "UD_136019438601" "" "https://www.LOVD.nl/MNS1" "" "1" "29636" "55329" "610766" "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/MNS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-16 08:34:43" "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}}" "00013743" "MNS1" "meiosis-specific nuclear structural 1" "001" "NM_018365.2" "" "NP_060835.1" "" "" "" "-165" "1858" "1488" "56757335" "56720929" "" "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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MNS1" "00201" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00303540" "" "" "" "6" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "4-generation family, 6 affected (6M), unaffected heterozygous carrier parents" "M" "yes" "Palestine" "" "0" "" "" "" "FamALPatII6" "00303541" "" "" "00303540" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "yes" "Palestine" "" "0" "" "" "" "FamALPatII7" "00303542" "" "" "00303540" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "yes" "Palestine" "" "0" "" "" "" "FamALPatII10" "00303543" "" "" "00303540" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "yes" "Palestine" "" "0" "" "" "" "FamALPatII11" "00303544" "" "" "00303540" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "yes" "Palestine" "" "0" "" "" "" "FamALPatIII9" "00303545" "" "" "00303540" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "yes" "Palestine" "" "0" "" "" "" "FamALPatIV3" "00303546" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Jordan" "" "0" "" "" "" "FamBGPatII1" "00303547" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "yes" "Jordan" "" "0" "" "" "" "FamBGPatII2" "00303548" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamMSPatII1" "00303550" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "F" "yes" "Israel" "" "0" "" "" "" "FamOI-11PatII6" "00404724" "" "" "" "1" "" "01164" "" "prenatal trio exom Dx after ultra-sound abnormalities" "?" "" "" "" "0" "" "" "" "194922" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00303540" "00201" "00303541" "00201" "00303542" "00201" "00303543" "00201" "00303544" "00201" "00303545" "00201" "00303546" "00201" "00303547" "00201" "00303548" "00201" "00303550" "00201" "00404724" "05128" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 05128 ## Count = 11 "{{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}}" "0000230616" "00201" "00303540" "00006" "Familial, autosomal recessive" "55y" "see paper; ..., infertility; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230617" "00201" "00303541" "00006" "Familial, autosomal recessive" "53y" "see paper; ..., infertility; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230618" "00201" "00303542" "00006" "Familial, autosomal recessive" "47y" "see paper; ..., infertility; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230619" "00201" "00303543" "00006" "Familial, autosomal recessive" "44y" "see paper; ..., infertility; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230620" "00201" "00303544" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., situs inversus totalis; infertility; mild respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230621" "00201" "00303545" "00006" "Familial, autosomal recessive" "3m" "see paper; ..., dextrocardia associated with congenitally corrected transposition of the great arteries, mitral atresia and pulmonic atresia; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230622" "00201" "00303546" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., situs inversus totalis; suspected infertility; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230623" "00201" "00303547" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., situs inversus totalis; infertility; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230624" "00201" "00303548" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., situs inversus totalis; no respiratory problems" "" "" "" "" "" "" "" "" "male infertility" "0000230626" "00201" "00303550" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough" "" "" "" "" "" "" "" "CILD3" "infertility" "0000297299" "05128" "00404724" "01164" "Familial, autosomal recessive" "" "Dextrocardia, Aortic valve stenosis, Abnormal heart morphology, Sinus bradycardia, Ventricular septal defect, Echogenic fetal bowel, Increased nuchal translucency, Abnormality of prenatal development or birth, Heterotaxy" "" "" "" "" "" "" "" "" "prental" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304668" "00303540" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000304669" "00303541" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000304670" "00303542" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000304671" "00303543" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000304672" "00303544" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304673" "00303545" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304674" "00303546" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304675" "00303547" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000304676" "00303548" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304678" "00303550" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000405964" "00404724" "1" "01164" "01164" "2022-03-07 13:14:53" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000304668" "MNS1" "0000304669" "MNS1" "0000304670" "MNS1" "0000304671" "MNS1" "0000304672" "MNS1" "0000304673" "MNS1" "0000304674" "MNS1" "0000304675" "MNS1" "0000304676" "MNS1" "0000304678" "DNAH5" "0000304678" "MNS1" "0000405964" "MNS1" ## 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 = 19 "{{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}}" "0000668166" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668167" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668168" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668169" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668170" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "transmission electron microscopy partial outer dynein arm defect" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668171" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668172" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668173" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668174" "3" "90" "15" "56736015" "56736015" "subst" "0.000263539" "00006" "MNS1_000003" "g.56736015G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56443817G>A" "" "pathogenic (recessive)" "" "0000668180" "3" "90" "15" "56736721" "56736721" "subst" "0" "00006" "MNS1_000002" "g.56736721G>A" "" "{PMID:Ta_Shma 2020:30148830}" "" "" "" "Germline" "" "" "0" "" "" "g.56444523G>A" "" "pathogenic (recessive)" "" "0000680216" "0" "70" "15" "56735910" "56735910" "subst" "0" "01804" "MNS1_000004" "g.56735910G>A" "" "" "" "MNS1(NM_018365.2):c.829C>T (p.(Gln277*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000842135" "11" "70" "15" "56736790" "56736790" "subst" "4.06577E-6" "01164" "MNS1_000005" "g.56736790G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000842136" "21" "50" "15" "56739120" "56739120" "subst" "3.70486E-5" "01164" "MNS1_000006" "g.56739120C>A" "" "" "" "" "ACMG: PM2_SUP, PM3, (BP4)" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000863901" "0" "50" "15" "56735863" "56735865" "del" "0" "01943" "MNS1_000007" "g.56735863_56735865del" "" "" "" "MNS1(NM_018365.3):c.877_879delGAG (p.E293del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863902" "0" "30" "15" "56735955" "56735955" "subst" "0" "01943" "MNS1_000008" "g.56735955C>T" "" "" "" "MNS1(NM_018365.3):c.784G>A (p.E262K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892160" "0" "50" "15" "56723692" "56723692" "subst" "0.0014218" "02325" "MNS1_000009" "g.56723692C>T" "" "" "" "MNS1(NM_018365.4):c.1274G>A (p.R425H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926003" "0" "90" "15" "56736724" "56736724" "subst" "0" "02327" "MNS1_000010" "g.56736724T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950398" "0" "50" "15" "56535399" "56535399" "subst" "0" "02325" "MNS1_000011" "g.56535399C>T" "" "" "" "RFX7(NM_022841.7):c.85G>A (p.A29T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040458" "0" "50" "15" "56535332" "56535332" "subst" "0" "01804" "MNS1_000012" "g.56535332T>C" "" "" "" "RFX7(NM_022841.7):c.152A>G (p.(Asn51Ser))" "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 MNS1 ## Count = 19 "{{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}}" "0000668166" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668167" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668168" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668169" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668170" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668171" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668172" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668173" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668174" "00013743" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242*)" "" "0000668180" "00013743" "90" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Gln203*)" "" "0000680216" "00013743" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277Ter)" "" "0000842135" "00013743" "70" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180*)" "" "0000842136" "00013743" "50" "375" "0" "375" "0" "c.375G>T" "r.(?)" "p.(Glu125Asp)" "" "0000863901" "00013743" "50" "877" "0" "879" "0" "c.877_879del" "r.(?)" "p.(Glu293del)" "" "0000863902" "00013743" "30" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Glu262Lys)" "" "0000892160" "00013743" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425His)" "" "0000926003" "00013743" "90" "604" "0" "604" "0" "c.604A>T" "r.(?)" "p.(Lys202*)" "" "0000950398" "00013743" "50" "187388" "0" "187388" "0" "c.*185900G>A" "r.(=)" "p.(=)" "" "0001040458" "00013743" "50" "187455" "0" "187455" "0" "c.*185967A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000304668" "0000668166" "0000304669" "0000668167" "0000304670" "0000668168" "0000304671" "0000668169" "0000304672" "0000668170" "0000304673" "0000668171" "0000304674" "0000668172" "0000304675" "0000668173" "0000304676" "0000668174" "0000304678" "0000668180" "0000405964" "0000842135" "0000405964" "0000842136"