### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MSH4) # 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}}" "MSH4" "mutS homolog 4 (E. coli)" "1" "p31" "unknown" "NG_029861.1" "UD_134712910140" "" "https://www.LOVD.nl/MSH4" "" "1" "7327" "4438" "602105" "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/MSH4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-09 14:57:47" "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}}" "00013952" "MSH4" "mutS homolog 4 (E. coli)" "001" "NM_002440.3" "" "NP_002431.2" "" "" "" "-115" "3162" "2811" "76262556" "76378923" "" "0000-00-00 00:00:00" "" "" ## 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}}" "MSH4" "00201" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00303291" "" "" "" "1" "" "00006" "Beyens ESHG2020 C01.4" "" "M" "" "Germany" "" "0" "" "" "" "PatM2047" "00303292" "" "" "" "1" "" "00006" "Beyens ESHG2020 C01.4" "" "M" "" "Syria" "" "0" "" "" "" "PatM1916" "00314843" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00303291" "00201" "00303292" "00201" "00314843" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201 ## Count = 3 "{{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}}" "0000230367" "00201" "00303291" "00006" "Familial, autosomal recessive" "" "see paper; ..., azoospermia" "" "" "" "" "" "" "" "" "male infertility" "0000230368" "00201" "00303292" "00006" "Familial, autosomal recessive" "" "see paper; ..., azoospermia" "" "" "" "" "" "" "" "" "male infertility" "0000238601" "00201" "00314843" "00006" "Unknown" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "" "non-obstructive azoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304416" "00303291" "1" "00006" "00006" "2020-06-09 17:27:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304417" "00303292" "1" "00006" "00006" "2020-06-09 17:27:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316016" "00314843" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000304416" "MSH4" "0000304417" "MSH4" "0000316016" "MSH4" ## 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 = 10 "{{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}}" "0000286656" "0" "30" "1" "76363756" "76363756" "subst" "0.0131178" "02326" "MSH4_000002" "g.76363756G>C" "" "" "" "MSH4(NM_002440.3):c.2520G>C (p.(Glu840Asp)), MSH4(NM_002440.4):c.2520G>C (p.E840D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75898071G>C" "" "likely benign" "" "0000320861" "0" "30" "1" "76363756" "76363756" "subst" "0.0131178" "01804" "MSH4_000002" "g.76363756G>C" "" "" "" "MSH4(NM_002440.3):c.2520G>C (p.(Glu840Asp)), MSH4(NM_002440.4):c.2520G>C (p.E840D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75898071G>C" "" "likely benign" "" "0000508364" "0" "30" "1" "76346921" "76346922" "ins" "0" "02326" "MSH4_000003" "g.76346921_76346922insAT" "" "" "" "MSH4(NM_002440.4):c.1782-10_1782-9insAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75881236_75881237insAT" "" "likely benign" "" "0000667858" "1" "70" "1" "76343916" "76343916" "subst" "0" "00006" "MSH4_000004" "g.76343916C>T" "" "Beyens ESHG2020 C01.4" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000667859" "3" "70" "1" "76356415" "76356415" "subst" "3.31299E-5" "00006" "MSH4_000006" "g.76356415C>T" "" "Beyens ESHG2020 C01.4" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000667863" "2" "70" "1" "76345743" "76345743" "del" "0" "00006" "MSH4_000005" "g.76345743del" "" "Beyens ESHG2020 C01.4" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000698132" "0" "50" "1" "76378502" "76378502" "subst" "0.0404785" "00006" "MSH4_000007" "g.76378502G>A" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75912817G>A" "" "VUS" "" "0000947298" "0" "70" "1" "76262902" "76262902" "del" "0" "02329" "MSH4_000008" "g.76262902del" "" "" "" "MSH4(NM_002440.4):c.232delC (p.R78Gfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024203" "0" "70" "1" "76349452" "76349452" "subst" "8.13603E-6" "02325" "MSH4_000009" "g.76349452G>T" "" "" "" "MSH4(NM_002440.4):c.2053G>T (p.G685*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032177" "0" "30" "1" "76378502" "76378502" "subst" "0.0404785" "01804" "MSH4_000007" "g.76378502G>A" "" "" "" "MSH4(NM_002440.4):c.2741G>A (p.(Ser914Asn))" "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 MSH4 ## Count = 10 "{{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}}" "0000286656" "00013952" "30" "2520" "0" "2520" "0" "c.2520G>C" "r.(?)" "p.(Glu840Asp)" "" "0000320861" "00013952" "30" "2520" "0" "2520" "0" "c.2520G>C" "r.(?)" "p.(Glu840Asp)" "" "0000508364" "00013952" "30" "1782" "-10" "1782" "-9" "c.1782-10_1782-9insAT" "r.(=)" "p.(=)" "" "0000667858" "00013952" "70" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Gln485*)" "" "0000667859" "00013952" "70" "2261" "0" "2261" "0" "c.2261C>T" "r.(?)" "p.(Ser754Leu)" "" "0000667863" "00013952" "70" "1686" "0" "1686" "0" "c.1686del" "r.(?)" "p.(Val563*)" "" "0000698132" "00013952" "50" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.(Ser914Asn)" "" "0000947298" "00013952" "70" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Arg78Glyfs*81)" "" "0001024203" "00013952" "70" "2053" "0" "2053" "0" "c.2053G>T" "r.(?)" "p.(Gly685*)" "" "0001032177" "00013952" "30" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.(Ser914Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000304416" "0000667858" "0000304416" "0000667863" "0000304417" "0000667859" "0000316016" "0000698132"