### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPATA5) # 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}}" "SPATA5" "spermatogenesis associated 5" "4" "q28.1" "unknown" "NC_000004.11" "UD_132610710873" "" "http://www.LOVD.nl/SPATA5" "" "1" "18119" "166378" "613940" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SPATA5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-12 21:43:27" "00000" "2025-07-08 13:22:38" ## 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}}" "00020108" "SPATA5" "spermatogenesis associated 5" "001" "NM_145207.2" "" "NP_660208.2" "" "" "" "-73" "8068" "2682" "123844225" "124240605" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "05466" "EHLMRS" "epilepsy, hearing loss, and mental retardation syndrome (EHLMRS)" "AR" "616577" "" "autosomal recessive" "" "00006" "2018-08-17 11:43:30" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SPATA5" "05466" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00049849" "" "" "" "2" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 2 affected sisters; unaffected heterozygous carrier parents" "F" "no" "" ">06y" "0" "" "" "European" "" "00049850" "" "" "" "2" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, afffected brother/sister, unaffected heterozygous carrier parents" "M" "no" "" ">11y" "0" "" "" "Hispanic" "" "00049851" "" "" "00049849" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 2 affected sisters; unaffected heterozygous carrier parents" "F" "no" "" ">09y" "0" "" "" "European" "" "00049852" "" "" "00049850" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, afffected brother/sister, unaffected heterozygous carrier parents" "F" "no" "" ">06y" "0" "" "" "Hispanic" "" "00049853" "" "" "" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 1 afffected, unaffected heterozygous carrier parents" "F" "no" "" ">5y" "0" "" "" "European" "" "00049854" "" "" "" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 1 afffected, unaffected heterozygous carrier parents" "F" "no" "" ">4y" "0" "" "" "European" "" "00049855" "" "" "" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 1 afffected, unaffected heterozygous carrier parents" "F" "no" "" ">2y" "0" "" "" "European" "" "00049856" "" "" "" "2" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, afffected brother/sister, unaffected heterozygous carrier parents" "M" "no" "" ">19y" "0" "" "" "European" "" "00049857" "" "" "" "2" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 2 afffected brothers, unaffected heterozygous carrier parents" "M" "no" "" ">8y" "0" "" "" "European" "" "00049858" "" "" "" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 1 afffected, unaffected heterozygous carrier parents" "M" "no" "" ">5y" "0" "" "" "European" "" "00049859" "" "" "" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 1 afffected, unaffected heterozygous carrier parents" "F" "" "" ">11y" "0" "" "" "European" "" "00049860" "" "" "" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 1 afffected, unaffected heterozygous carrier parents" "M" "" "" ">4y" "0" "" "" "European" "" "00049863" "" "" "00049856" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, afffected brother/sister, unaffected heterozygous carrier parents" "F" "no" "" ">19y" "0" "" "" "European" "" "00049864" "" "" "00049857" "1" "" "00006" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "2-generation family, 2 afffected brothers, unaffected heterozygous carrier parents" "M" "no" "" ">8y" "0" "" "" "European" "" "00103212" "" "" "" "2" "" "01261" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "see paper, 2 sibs, same phenotype" "-" "" "Estonia" "" "0" "" "" "" "" "00103213" "" "" "" "1" "" "01261" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "see paper, Patient 3" "F" "" "Estonia" "" "0" "" "" "" "" "00103214" "" "" "" "1" "" "01261" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "see paper, Patient 4" "M" "" "Estonia" "" "0" "" "" "" "" "00103215" "" "" "" "1" "" "01261" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "see paper, Patient 5" "F" "" "Estonia" "" "0" "" "" "" "" "00177015" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "47651" "00177016" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "73068" "00207920" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00293535" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00404729" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "192779" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00049849" "00198" "00049850" "00198" "00049851" "00198" "00049852" "00198" "00049853" "00198" "00049854" "00198" "00049855" "00198" "00049856" "00198" "00049857" "00198" "00049858" "00198" "00049859" "00198" "00049860" "00198" "00049863" "00198" "00049864" "00198" "00103212" "00198" "00103213" "00198" "00103214" "00198" "00103215" "00198" "00177015" "00344" "00177016" "00344" "00293535" "00198" "00404729" "05466" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 05466 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036622" "00198" "00049849" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI thin corpus callosum, no seizures, EEG abnormal, gastrointestinal issues\r\n, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036623" "00198" "00049850" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI progressive diffuse atrophy, seizures, EEG abnormal, gastrointestinal issues\r\n, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036624" "00198" "00049852" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, no spasticity, developmental delay, vision defect?, sensorineural hearing loss, microcephaly, MRI normal, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036625" "00198" "00049853" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI delayed myelination, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036626" "00198" "00049854" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, no spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI normal, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036627" "00198" "00049855" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI hypomyelination, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036628" "00198" "00049856" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly?, MRI cortical atrophy, immature myelination, seizures, EEG abnormal, gastrointestinal issues\r\n, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036629" "00198" "00049857" "00006" "Isolated (sporadic)" "" "see paper; hypertonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI normal, seizures, EEG abnormal, gastrointestinal issues, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036630" "00198" "00049858" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, no microcephaly, MRI enlarged cerebrospinal fluid spaces, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036631" "00198" "00049859" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, no spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI enlarged cerebrospinal fluid spaces, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036632" "00198" "00049860" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, no spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI normal, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036634" "00198" "00049851" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI thin corpus callosum, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036637" "00198" "00049863" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, no spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, no MRI, seizures, EEG abnormal, no gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000036638" "00198" "00049864" "00006" "Isolated (sporadic)" "" "see paper; hypotonia, no spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, no MRI, seizures, EEG abnormal, gastrointestinal issues, …" "" "" "" "" "" "" "" "" "" "" "" "0000081289" "00198" "00103212" "01261" "Familial, autosomal recessive" "" "see paper, 2 sibs, epilepsy, hearing loss, developmental delay, early death" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000081290" "00198" "00103213" "01261" "Isolated (sporadic)" "" "see paper, epilepsy, hearing loss, developmental delay" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000081291" "00198" "00103214" "01261" "Isolated (sporadic)" "" "see paper, epilepsy, hearing loss, developmental delay" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000081292" "00198" "00103215" "01261" "Isolated (sporadic)" "" "see paper, epilepsy, hearing loss, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000141832" "00344" "00177015" "02552" "Familial, autosomal recessive" "" "HP:0000666\r\nHP:0002451\r\nHP:0001285" "00y08m" "" "" "" "" "" "" "" "Epilepsy, hearing loss, and mental retardation syndrome (MIM 616577)" "" "" "0000141833" "00344" "00177016" "02552" "Familial, autosomal recessive" "" "HP:0000407\r\nHP:0001285\r\nHP:0012043\r\nHP:0000565\r\nHP:0002015\r\nHP:0000276\r\nHP:0000275\r\nHP:0000286\r\nHP:0000431\r\nHP:0002705\r\nHP:0012098\r\nHP:0005257\r\nHP:0000953" "00y05m" "" "" "" "" "" "" "" "" "" "" "0000155695" "00198" "00207920" "01164" "Unknown" "" "HP:0002133 (Status epilepticus)" "" "" "" "" "" "" "" "" "" "" "" "0000297304" "05466" "00404729" "01164" "Familial, autosomal recessive" "00y06m" "Hearing Hypsarrhythmia, impairment, Global developmental delay, Seizure" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000049770" "00049849" "1" "00006" "00006" "2015-09-13 11:57:56" "" "" "SEQ" "DNA" "" "" "0000049771" "00049850" "1" "00006" "00006" "2015-09-13 12:03:42" "" "" "SEQ" "DNA" "" "" "0000049772" "00049851" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049773" "00049852" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049774" "00049853" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049775" "00049854" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049776" "00049855" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049777" "00049856" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049778" "00049857" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049779" "00049858" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049780" "00049859" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049781" "00049860" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049784" "00049863" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000049785" "00049864" "1" "00006" "00006" "2015-09-13 12:02:52" "" "" "SEQ" "DNA" "" "" "0000103667" "00103212" "1" "01261" "01261" "2017-04-09 19:57:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000103668" "00103213" "1" "01261" "01261" "2017-04-09 20:15:33" "" "" "SEQ-NG" "DNA" "" "" "0000103669" "00103214" "1" "01261" "01261" "2017-04-09 20:22:31" "" "" "SEQ-NG" "DNA" "" "" "0000103670" "00103215" "1" "01261" "01261" "2017-04-09 20:32:18" "" "" "SEQ-NG" "DNA" "" "" "0000177907" "00177015" "1" "02552" "02552" "2018-08-16 12:02:03" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000177908" "00177016" "1" "02552" "02552" "2018-08-16 12:13:33" "02552" "2018-08-16 12:19:22" "SEQ-NG-I" "DNA" "blood" "WES" "0000208965" "00207920" "1" "01164" "01164" "2018-12-04 16:33:07" "" "" "SEQ-NG" "DNA" "" "" "0000294703" "00293535" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000405969" "00404729" "1" "01164" "01164" "2022-03-07 13:58:55" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000049770" "SPATA5" "0000049771" "SPATA5" "0000049772" "SPATA5" "0000049773" "SPATA5" "0000049774" "SPATA5" "0000049775" "SPATA5" "0000049776" "SPATA5" "0000049777" "SPATA5" "0000049778" "SPATA5" "0000049779" "SPATA5" "0000049780" "SPATA5" "0000049781" "SPATA5" "0000049784" "SPATA5" "0000049785" "SPATA5" "0000405969" "SPATA5" ## 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 = 82 "{{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}}" "0000078655" "21" "90" "4" "124235068" "124235068" "subst" "0" "00006" "SPATA5_000001" "g.124235068C>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123313913C>T" "" "pathogenic" "" "0000078656" "11" "90" "4" "123868503" "123868507" "del" "4.06144E-6" "00006" "SPATA5_000002" "g.123868503_123868507del" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "1574_1578delATGCT" "" "Germline" "yes" "" "0" "" "" "g.122947348_122947352del" "" "pathogenic" "" "0000078657" "21" "90" "4" "124177181" "124177181" "subst" "0" "00006" "SPATA5_000003" "g.124177181G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123256026G>A" "" "pathogenic" "" "0000078658" "11" "90" "4" "123848894" "123848894" "subst" "0" "00006" "SPATA5_000004" "g.123848894G>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122927739G>T" "" "pathogenic" "" "0000078660" "21" "90" "4" "124235068" "124235068" "subst" "0" "00006" "SPATA5_000001" "g.124235068C>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123313913C>T" "" "pathogenic" "" "0000078661" "11" "90" "4" "123868503" "123868507" "del" "4.06144E-6" "00006" "SPATA5_000002" "g.123868503_123868507del" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "1574_1578delATGCT" "" "Germline" "yes" "" "0" "" "" "g.122947348_122947352del" "" "pathogenic" "" "0000078662" "21" "90" "4" "124177181" "124177181" "subst" "0" "00006" "SPATA5_000003" "g.124177181G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123256026G>A" "" "pathogenic" "" "0000078663" "11" "90" "4" "123848894" "123848894" "subst" "0" "00006" "SPATA5_000004" "g.123848894G>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122927739G>T" "" "pathogenic" "" "0000078681" "21" "90" "4" "124177192" "124177201" "del" "0" "00006" "SPATA5_000005" "g.124177192_124177201del" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "2362_2371delATTGATAGAA" "" "Germline" "yes" "" "0" "" "" "g.123256037_123256046del" "" "pathogenic" "" "0000078682" "11" "90" "4" "123848876" "123848876" "subst" "6.52209E-5" "00006" "SPATA5_000006" "g.123848876G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122927721G>A" "" "pathogenic" "" "0000078683" "21" "90" "4" "123859289" "123859289" "subst" "1.68878E-5" "00006" "SPATA5_000007" "g.123859289C>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122938134C>T" "" "pathogenic" "" "0000078684" "11" "90" "4" "123855302" "123855302" "subst" "8.13782E-6" "00006" "SPATA5_000008" "g.123855302C>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122934147C>T" "" "pathogenic" "" "0000078685" "21" "90" "4" "123850204" "123850204" "subst" "0" "00006" "SPATA5_000009" "g.123850204G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122929049G>A" "" "pathogenic" "" "0000078686" "11" "90" "4" "123855302" "123855302" "subst" "8.13782E-6" "00006" "SPATA5_000008" "g.123855302C>T" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122934147C>T" "" "pathogenic" "" "0000078687" "11" "90" "4" "123949354" "123949354" "subst" "3.65619E-5" "00006" "SPATA5_000010" "g.123949354A>G" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123028199A>G" "" "pathogenic" "" "0000078688" "11" "90" "4" "123949354" "123949354" "subst" "3.65619E-5" "00006" "SPATA5_000010" "g.123949354A>G" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123028199A>G" "" "pathogenic" "" "0000078689" "21" "90" "4" "123868515" "123868515" "subst" "1.62463E-5" "00006" "SPATA5_000011" "g.123868515G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122947360G>A" "" "pathogenic" "" "0000078690" "21" "90" "4" "123868515" "123868515" "subst" "1.62463E-5" "00006" "SPATA5_000011" "g.123868515G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122947360G>A" "" "pathogenic" "" "0000078691" "11" "90" "4" "123949349" "123949349" "subst" "0" "00006" "SPATA5_000012" "g.123949349G>C" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123028194G>C" "" "pathogenic" "" "0000078692" "11" "90" "4" "123949349" "123949349" "subst" "0" "00006" "SPATA5_000012" "g.123949349G>C" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123028194G>C" "" "pathogenic" "" "0000078693" "21" "90" "4" "123868644" "123868644" "subst" "9.06895E-5" "00006" "SPATA5_000013" "g.123868644G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122947489G>A" "" "pathogenic" "" "0000078694" "21" "90" "4" "123868644" "123868644" "subst" "9.06895E-5" "00006" "SPATA5_000013" "g.123868644G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122947489G>A" "" "pathogenic" "" "0000078695" "11" "90" "4" "123949354" "123949354" "subst" "3.65619E-5" "00006" "SPATA5_000010" "g.123949354A>G" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123028199A>G" "" "pathogenic" "" "0000078696" "21" "90" "4" "123868606" "123868606" "subst" "4.0665E-6" "00006" "SPATA5_000014" "g.123868606C>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122947451C>A" "" "pathogenic" "" "0000078697" "3" "90" "4" "123855735" "123855737" "del" "0" "00006" "SPATA5_000015" "g.123855735_123855737del" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122934580_122934582del" "" "pathogenic" "" "0000078698" "3" "90" "4" "123848876" "123848876" "subst" "6.52209E-5" "00006" "SPATA5_000006" "g.123848876G>A" "" "{PMID:Tanaka 2015:26299366}, {DOI:Tanaka 2015:10.1016/j.ajhg.2015.07.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.122927721G>A" "" "pathogenic" "" "0000167136" "21" "90" "4" "123848875" "123848875" "subst" "4.07525E-6" "01261" "SPATA5_000016" "g.123848875C>T" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "yes" "rs773729755" "0" "" "" "g.122927720C>T" "" "pathogenic" "" "0000167137" "10" "90" "4" "123855735" "123855737" "del" "0" "01261" "SPATA5_000015" "g.123855735_123855737del" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "yes" "rs748291365" "0" "" "" "g.122934580_122934582del" "" "pathogenic" "" "0000167138" "21" "70" "4" "123855300" "123855300" "subst" "2.03394E-5" "01261" "SPATA5_000018" "g.123855300G>A" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "" "rs753587518" "0" "" "" "g.122934145G>A" "" "likely pathogenic" "" "0000167139" "11" "90" "4" "123855735" "123855737" "del" "0" "01261" "SPATA5_000015" "g.123855735_123855737del" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "" "rs748291365" "0" "" "" "g.122934580_122934582del" "" "pathogenic" "" "0000167140" "21" "70" "4" "123850300" "123850300" "subst" "2.04217E-5" "01261" "SPATA5_000017" "g.123850300C>T" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "" "" "0" "" "" "g.122929145C>T" "" "likely pathogenic" "" "0000167141" "11" "90" "4" "123855735" "123855737" "del" "0" "01261" "SPATA5_000015" "g.123855735_123855737del" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "" "rs748291365" "0" "" "" "g.122934580_122934582del" "" "pathogenic" "" "0000167142" "21" "70" "4" "123855446" "123855446" "subst" "0" "01261" "SPATA5_000019" "g.123855446C>T" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "" "" "0" "" "" "g.122934291C>T" "" "likely pathogenic" "" "0000167143" "11" "70" "4" "124177214" "124177214" "subst" "0" "01261" "SPATA5_000020" "g.124177214C>G" "" "{PMID:Puusepp 2018:29343804}, {DOI:Puusepp 2018:10.1038/s41431-017-0001-6}" "" "" "" "Germline" "" "" "0" "" "" "g.123256059C>G" "" "likely pathogenic" "" "0000252411" "0" "70" "4" "123844298" "123844298" "subst" "8.93778E-5" "02326" "SPATA5_000021" "g.123844298A>C" "" "" "" "SPATA5(NM_145207.2):c.1A>C (p.M1?), SPATA5(NM_145207.3):c.1A>C (p.(Met1?), p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122923143A>C" "" "likely pathogenic" "" "0000299679" "0" "70" "4" "123855815" "123855815" "subst" "4.14996E-6" "02329" "SPATA5_000022" "g.123855815G>C" "" "" "" "SPATA5(NM_145207.3):c.1069G>C (p.G357R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122934660G>C" "" "likely pathogenic" "" "0000299680" "0" "90" "4" "123857312" "123857312" "subst" "0" "02329" "SPATA5_000023" "g.123857312G>C" "" "" "" "SPATA5(NM_145207.3):c.1334+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122936157G>C" "" "pathogenic" "" "0000302411" "0" "90" "4" "123868606" "123868606" "subst" "4.0665E-6" "02326" "SPATA5_000014" "g.123868606C>A" "" "" "" "SPATA5(NM_145207.3):c.1677C>A (p.Y559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122947451C>A" "" "pathogenic" "" "0000308758" "0" "50" "4" "123949348" "123949348" "subst" "1.22128E-5" "01943" "SPATA5_000024" "g.123949348G>C" "" "" "" "SPATA5(NM_145207.2):c.1877G>C (p.W626S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123028193G>C" "" "VUS" "" "0000330093" "0" "90" "4" "123848876" "123848876" "subst" "6.52209E-5" "01804" "SPATA5_000006" "g.123848876G>A" "" "" "" "SPATA5(NM_001317799.1):c.248G>A (p.(Arg83Gln)), SPATA5(NM_145207.2):c.251G>A (p.R84Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122927721G>A" "" "pathogenic" "" "0000400783" "11" "70" "4" "123855735" "123855737" "del" "0" "02552" "SPATA5_000015" "g.123855735_123855737del" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.122934580_122934582del" "" "likely pathogenic (recessive)" "" "0000400784" "11" "70" "4" "124177219" "124177219" "subst" "0" "02552" "SPATA5_000025" "g.124177219C>G" "" "{PMID:Papuc 2019:30552426}" "" "" "" "De novo" "" "" "0" "" "" "g.123256064C>G" "" "likely pathogenic (recessive)" "" "0000400785" "21" "70" "4" "123844298" "123844298" "subst" "8.93778E-5" "02552" "SPATA5_000021" "g.123844298A>C" "" "{PMID:Papuc 2019:30552426}" "" "Met1?" "" "Germline" "" "" "0" "" "" "g.122923143A>C" "" "likely pathogenic (recessive)" "" "0000439027" "0" "50" "4" "123848902" "123848902" "subst" "6.95547E-5" "01164" "SPATA5_000026" "g.123848902G>A" "" "" "" "" "ACMG grading: PP3,PM2; no second variant in SPATA5 detected" "Germline" "" "rs758521022" "0" "" "" "g.122927747G>A" "" "VUS" "ACMG" "0000521513" "0" "70" "4" "123844298" "123844298" "subst" "8.93778E-5" "02327" "SPATA5_000021" "g.123844298A>C" "" "" "" "SPATA5(NM_145207.2):c.1A>C (p.M1?), SPATA5(NM_145207.3):c.1A>C (p.(Met1?), p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122923143A>C" "" "likely pathogenic" "" "0000521514" "0" "50" "4" "123848876" "123848876" "subst" "6.52209E-5" "01943" "SPATA5_000006" "g.123848876G>A" "" "" "" "SPATA5(NM_001317799.1):c.248G>A (p.(Arg83Gln)), SPATA5(NM_145207.2):c.251G>A (p.R84Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122927721G>A" "" "VUS" "" "0000521515" "0" "70" "4" "123848876" "123848876" "subst" "6.52209E-5" "02327" "SPATA5_000006" "g.123848876G>A" "" "" "" "SPATA5(NM_001317799.1):c.248G>A (p.(Arg83Gln)), SPATA5(NM_145207.2):c.251G>A (p.R84Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122927721G>A" "" "likely pathogenic" "" "0000521517" "0" "90" "4" "123855735" "123855737" "del" "0" "02326" "SPATA5_000015" "g.123855735_123855737del" "" "" "" "SPATA5(NM_145207.2):c.989_991delCAA (p.T330del), SPATA5(NM_145207.3):c.989_991del (p.(Thr330del)), SPATA5(NM_145207.3):c.989_991delCAA (p.T330del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122934580_122934582del" "" "pathogenic" "" "0000521518" "0" "90" "4" "123855735" "123855737" "del" "0" "02329" "SPATA5_000015" "g.123855735_123855737del" "" "" "" "SPATA5(NM_145207.2):c.989_991delCAA (p.T330del), SPATA5(NM_145207.3):c.989_991del (p.(Thr330del)), SPATA5(NM_145207.3):c.989_991delCAA (p.T330del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122934580_122934582del" "" "pathogenic" "" "0000521519" "0" "30" "4" "123868390" "123868390" "subst" "0" "01804" "SPATA5_000028" "g.123868390A>G" "" "" "" "SPATA5(NM_145207.2):c.1461A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122947235A>G" "" "likely benign" "" "0000521520" "0" "70" "4" "123949354" "123949354" "subst" "3.65619E-5" "01943" "SPATA5_000010" "g.123949354A>G" "" "" "" "SPATA5(NM_145207.2):c.1883A>G (p.D628G), SPATA5(NM_145207.3):c.1883A>G (p.D628G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123028199A>G" "" "likely pathogenic" "" "0000521521" "0" "70" "4" "123949354" "123949354" "subst" "3.65619E-5" "02327" "SPATA5_000010" "g.123949354A>G" "" "" "" "SPATA5(NM_145207.2):c.1883A>G (p.D628G), SPATA5(NM_145207.3):c.1883A>G (p.D628G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123028199A>G" "" "likely pathogenic" "" "0000521522" "0" "70" "4" "123949354" "123949354" "subst" "3.65619E-5" "02326" "SPATA5_000010" "g.123949354A>G" "" "" "" "SPATA5(NM_145207.2):c.1883A>G (p.D628G), SPATA5(NM_145207.3):c.1883A>G (p.D628G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123028199A>G" "" "likely pathogenic" "" "0000609059" "0" "50" "4" "123949435" "123949435" "subst" "0.00059299" "01943" "SPATA5_000031" "g.123949435G>A" "" "" "" "SPATA5(NM_145207.2):c.1964G>A (p.R655Q), SPATA5(NM_145207.3):c.1964G>A (p.(Arg655Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123028280G>A" "" "VUS" "" "0000651392" "1" "10" "4" "123855513" "123855513" "subst" "0.00917193" "03575" "SPATA5_000027" "g.123855513T>C" "3/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs55643281}" "Germline" "" "rs55643281" "0" "" "" "g.122934358T>C" "" "benign" "" "0000689223" "0" "90" "4" "123868541" "123868541" "subst" "0" "01943" "SPATA5_000032" "g.123868541C>T" "" "" "" "SPATA5(NM_145207.2):c.1612C>T (p.R538*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689224" "0" "90" "4" "123868644" "123868644" "subst" "9.06895E-5" "01943" "SPATA5_000013" "g.123868644G>A" "" "" "" "SPATA5(NM_145207.2):c.1714+1G>A, SPATA5(NM_145207.3):c.1714+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719734" "0" "70" "4" "123844298" "123844298" "subst" "8.93778E-5" "01943" "SPATA5_000021" "g.123844298A>C" "" "" "" "SPATA5(NM_145207.2):c.1A>C (p.M1?), SPATA5(NM_145207.3):c.1A>C (p.(Met1?), p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719735" "0" "90" "4" "123855735" "123855737" "del" "0" "01943" "SPATA5_000015" "g.123855735_123855737del" "" "" "" "SPATA5(NM_145207.2):c.989_991delCAA (p.T330del), SPATA5(NM_145207.3):c.989_991del (p.(Thr330del)), SPATA5(NM_145207.3):c.989_991delCAA (p.T330del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801491" "0" "30" "4" "123855726" "123855726" "subst" "0" "01943" "SPATA5_000033" "g.123855726C>G" "" "" "" "SPATA5(NM_145207.2):c.980C>G (p.S327C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801492" "0" "30" "4" "123856880" "123856880" "subst" "0.000317726" "01943" "SPATA5_000034" "g.123856880C>T" "" "" "" "SPATA5(NM_145207.2):c.1159C>T (p.P387S), SPATA5(NM_145207.3):c.1159C>T (p.(Pro387Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801493" "0" "90" "4" "123857310" "123857310" "subst" "2.0935E-5" "01943" "SPATA5_000035" "g.123857310C>T" "" "" "" "SPATA5(NM_145207.2):c.1333C>T (p.R445*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801494" "0" "50" "4" "124011865" "124011865" "subst" "0" "01943" "SPATA5_000036" "g.124011865G>A" "" "" "" "SPATA5(NM_145207.2):c.2340+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000842145" "21" "70" "4" "123855735" "123855737" "del" "0" "01164" "SPATA5_000015" "g.123855735_123855737del" "" "PMID: 26299366, 27246907, 27683084, 28293831" "" "" "ACMG: PS4, PM3, PM5, PM2_SUP" "Germline" "yes" "" "0" "" "" "g.122934580_122934582del" "" "likely pathogenic (recessive)" "ACMG" "0000842146" "21" "90" "4" "123900482" "123900482" "subst" "1.21822E-5" "01164" "SPATA5_000037" "g.123900482C>T" "" "" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "yes" "" "" "" "" "" "VCV001074946.1" "pathogenic (recessive)" "ACMG" "0000850517" "0" "30" "4" "124235036" "124235036" "subst" "0" "01943" "SPATA5_000041" "g.124235036A>C" "" "" "" "SPATA5(NM_145207.2):c.2506-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859226" "0" "50" "4" "123868393" "123868393" "subst" "3.69682E-5" "01943" "SPATA5_000038" "g.123868393A>C" "" "" "" "SPATA5(NM_145207.2):c.1464A>C (p.V488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859227" "0" "50" "4" "123868514" "123868514" "subst" "4.06167E-5" "01943" "SPATA5_000039" "g.123868514C>T" "" "" "" "SPATA5(NM_145207.2):c.1585C>T (p.R529W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859228" "0" "50" "4" "123868607" "123868607" "subst" "4.06709E-6" "01804" "SPATA5_000040" "g.123868607G>A" "" "" "" "SPATA5(NM_145207.2):c.1678G>A (p.(Val560Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963002" "0" "70" "4" "123844298" "123844298" "subst" "8.93778E-5" "02329" "SPATA5_000021" "g.123844298A>C" "" "" "" "SPATA5(NM_145207.2):c.1A>C (p.M1?), SPATA5(NM_145207.3):c.1A>C (p.(Met1?), p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976107" "0" "90" "4" "123844298" "123844298" "subst" "8.93778E-5" "01804" "SPATA5_000021" "g.123844298A>C" "" "" "" "SPATA5(NM_145207.2):c.1A>C (p.M1?), SPATA5(NM_145207.3):c.1A>C (p.(Met1?), p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976108" "0" "70" "4" "123855326" "123855326" "subst" "1.21883E-5" "01804" "SPATA5_000042" "g.123855326C>T" "" "" "" "SPATA5(NM_145207.3):c.580C>T (p.(Arg194Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976109" "0" "50" "4" "123859291" "123859291" "subst" "0" "01804" "SPATA5_000043" "g.123859291A>G" "" "" "" "SPATA5(NM_145207.3):c.1345A>G (p.(Ile449Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034317" "0" "50" "4" "123855291" "123855291" "subst" "3.26238E-5" "01804" "SPATA5_000044" "g.123855291C>T" "" "" "" "SPATA5(NM_145207.3):c.545C>T (p.(Thr182Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034318" "0" "90" "4" "123855735" "123855737" "del" "0" "01804" "SPATA5_000015" "g.123855735_123855737del" "" "" "" "SPATA5(NM_145207.2):c.989_991delCAA (p.T330del), SPATA5(NM_145207.3):c.989_991del (p.(Thr330del)), SPATA5(NM_145207.3):c.989_991delCAA (p.T330del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034319" "0" "30" "4" "123856880" "123856880" "subst" "0.000317726" "01804" "SPATA5_000034" "g.123856880C>T" "" "" "" "SPATA5(NM_145207.2):c.1159C>T (p.P387S), SPATA5(NM_145207.3):c.1159C>T (p.(Pro387Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034320" "0" "90" "4" "123868644" "123868644" "subst" "9.06895E-5" "01804" "SPATA5_000013" "g.123868644G>A" "" "" "" "SPATA5(NM_145207.2):c.1714+1G>A, SPATA5(NM_145207.3):c.1714+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034321" "0" "30" "4" "123949435" "123949435" "subst" "0.00059299" "01804" "SPATA5_000031" "g.123949435G>A" "" "" "" "SPATA5(NM_145207.2):c.1964G>A (p.R655Q), SPATA5(NM_145207.3):c.1964G>A (p.(Arg655Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034322" "0" "30" "4" "124011739" "124011739" "subst" "0.00015847" "01804" "SPATA5_000045" "g.124011739T>C" "" "" "" "SPATA5(NM_145207.3):c.2219T>C (p.(Leu740Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034323" "0" "50" "4" "124011763" "124011763" "subst" "1.62471E-5" "01804" "SPATA5_000046" "g.124011763G>A" "" "" "" "SPATA5(NM_145207.3):c.2243G>A (p.(Arg748His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045945" "0" "70" "4" "123844298" "123844298" "subst" "8.93778E-5" "02325" "SPATA5_000021" "g.123844298A>C" "" "" "" "SPATA5(NM_145207.2):c.1A>C (p.M1?), SPATA5(NM_145207.3):c.1A>C (p.(Met1?), p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001045946" "0" "90" "4" "123855735" "123855737" "del" "0" "02325" "SPATA5_000015" "g.123855735_123855737del" "" "" "" "SPATA5(NM_145207.2):c.989_991delCAA (p.T330del), SPATA5(NM_145207.3):c.989_991del (p.(Thr330del)), SPATA5(NM_145207.3):c.989_991delCAA (p.T330del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SPATA5 ## Count = 82 "{{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}}" "0000078655" "00020108" "90" "2531" "0" "2531" "0" "c.2531C>T" "r.(?)" "p.(Ala844Val)" "16" "0000078656" "00020108" "90" "1574" "0" "1578" "0" "c.1574_1578del" "r.(?)" "p.(Asn525Thrfs*20)" "9" "0000078657" "00020108" "90" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784Gln)" "15" "0000078658" "00020108" "90" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Ser90Ile)" "2" "0000078660" "00020108" "90" "2531" "0" "2531" "0" "c.2531C>T" "r.(?)" "p.(Ala844Val)" "16" "0000078661" "00020108" "90" "1574" "0" "1578" "0" "c.1574_1578del" "r.(?)" "p.(Asn525Thrfs*20)" "9" "0000078662" "00020108" "90" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784Gln)" "15" "0000078663" "00020108" "90" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Ser90Ile)" "2" "0000078681" "00020108" "90" "2362" "0" "2371" "0" "c.2362_2371del" "r.(?)" "p.(Ile788Serfs*47)" "15" "0000078682" "00020108" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "2" "0000078683" "00020108" "90" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ser448Leu)" "8" "0000078684" "00020108" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186*)" "5" "0000078685" "00020108" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Ala100Thr)" "3" "0000078686" "00020108" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186*)" "5" "0000078687" "00020108" "90" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Asp628Gly)" "11" "0000078688" "00020108" "90" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Asp628Gly)" "11" "0000078689" "00020108" "00" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529Gln)" "9" "0000078690" "00020108" "90" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529Gln)" "9" "0000078691" "00020108" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Trp626Cys)" "11" "0000078692" "00020108" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Trp626Cys)" "11" "0000078693" "00020108" "90" "1714" "1" "1714" "1" "c.1714+1G>A" "r.spl?" "p.?" "9i" "0000078694" "00020108" "90" "1714" "1" "1714" "1" "c.1714+1G>A" "r.spl" "p.?" "9i" "0000078695" "00020108" "90" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Asp628Gly)" "11" "0000078696" "00020108" "90" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559*)" "9" "0000078697" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "5" "0000078698" "00020108" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "2" "0000167136" "00020108" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84*)" "2" "0000167137" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "5" "0000167138" "00020108" "70" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Gly185Glu)" "5" "0000167139" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "5" "0000167140" "00020108" "70" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Gln132*)" "3" "0000167141" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "5" "0000167142" "00020108" "70" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "5" "0000167143" "00020108" "70" "2384" "0" "2384" "0" "c.2384C>G" "r.(?)" "p.(Pro795Arg)" "15" "0000252411" "00020108" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0000299679" "00020108" "70" "1069" "0" "1069" "0" "c.1069G>C" "r.(?)" "p.(Gly357Arg)" "" "0000299680" "00020108" "90" "1334" "1" "1334" "1" "c.1334+1G>C" "r.spl?" "p.?" "" "0000302411" "00020108" "90" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559Ter)" "" "0000308758" "00020108" "50" "1877" "0" "1877" "0" "c.1877G>C" "r.(?)" "p.(Trp626Ser)" "" "0000330093" "00020108" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "0000400783" "00020108" "70" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" "0000400784" "00020108" "70" "2389" "0" "2389" "0" "c.2389C>G" "r.(?)" "p.(Pro797Ala)" "" "0000400785" "00020108" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.0?" "" "0000439027" "00020108" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.Gly93Arg" "" "0000521513" "00020108" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0000521514" "00020108" "50" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "0000521515" "00020108" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "0000521517" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" "0000521518" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" "0000521519" "00020108" "30" "1461" "0" "1461" "0" "c.1461A>G" "r.(?)" "p.(Glu487=)" "" "0000521520" "00020108" "70" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Asp628Gly)" "" "0000521521" "00020108" "70" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Asp628Gly)" "" "0000521522" "00020108" "70" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Asp628Gly)" "" "0000609059" "00020108" "50" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000651392" "00020108" "10" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Ile256Thr)" "" "0000689223" "00020108" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Ter)" "" "0000689224" "00020108" "90" "1714" "1" "1714" "1" "c.1714+1G>A" "r.spl?" "p.?" "" "0000719734" "00020108" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0000719735" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" "0000801491" "00020108" "30" "980" "0" "980" "0" "c.980C>G" "r.(?)" "p.(Ser327Cys)" "" "0000801492" "00020108" "30" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Pro387Ser)" "" "0000801493" "00020108" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "" "0000801494" "00020108" "50" "2340" "5" "2340" "5" "c.2340+5G>A" "r.spl?" "p.?" "" "0000842145" "00020108" "70" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" "0000842146" "00020108" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "" "0000850517" "00020108" "30" "2506" "-7" "2506" "-7" "c.2506-7A>C" "r.(=)" "p.(=)" "" "0000859226" "00020108" "50" "1464" "0" "1464" "0" "c.1464A>C" "r.(?)" "p.(Val488=)" "" "0000859227" "00020108" "50" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Arg529Trp)" "" "0000859228" "00020108" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Val560Ile)" "" "0000963002" "00020108" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0000976107" "00020108" "90" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0000976108" "00020108" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194*)" "" "0000976109" "00020108" "50" "1345" "0" "1345" "0" "c.1345A>G" "r.(?)" "p.(Ile449Val)" "" "0001034317" "00020108" "50" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0001034318" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" "0001034319" "00020108" "30" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Pro387Ser)" "" "0001034320" "00020108" "90" "1714" "1" "1714" "1" "c.1714+1G>A" "r.spl?" "p.?" "" "0001034321" "00020108" "30" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0001034322" "00020108" "30" "2219" "0" "2219" "0" "c.2219T>C" "r.(?)" "p.(Leu740Ser)" "" "0001034323" "00020108" "50" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Arg748His)" "" "0001045945" "00020108" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0001045946" "00020108" "90" "989" "0" "991" "0" "c.989_991del" "r.(?)" "p.(Thr330del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000049770" "0000078655" "0000049770" "0000078656" "0000049771" "0000078657" "0000049771" "0000078658" "0000049772" "0000078660" "0000049772" "0000078661" "0000049773" "0000078662" "0000049773" "0000078663" "0000049774" "0000078681" "0000049774" "0000078682" "0000049775" "0000078683" "0000049775" "0000078684" "0000049776" "0000078685" "0000049776" "0000078686" "0000049777" "0000078687" "0000049777" "0000078690" "0000049778" "0000078691" "0000049778" "0000078694" "0000049779" "0000078695" "0000049779" "0000078696" "0000049780" "0000078697" "0000049781" "0000078698" "0000049784" "0000078688" "0000049784" "0000078689" "0000049785" "0000078692" "0000049785" "0000078693" "0000103667" "0000167136" "0000103667" "0000167137" "0000103668" "0000167138" "0000103668" "0000167139" "0000103669" "0000167140" "0000103669" "0000167141" "0000103670" "0000167142" "0000103670" "0000167143" "0000177907" "0000400783" "0000177908" "0000400784" "0000177908" "0000400785" "0000208965" "0000439027" "0000294703" "0000651392" "0000405969" "0000842145" "0000405969" "0000842146"