### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SYCP2L) # 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}}" "SYCP2L" "synaptonemal complex protein 2-like" "6" "p24.2" "unknown" "NC_000006.11" "UD_132438627522" "" "https://www.LOVD.nl/SYCP2L" "" "1" "21537" "221711" "616799" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-19 17:21:01" "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}}" "00020617" "SYCP2L" "synaptonemal complex protein 2-like" "001" "NM_001040274.2" "" "NP_001035364.2" "" "" "" "-296" "2834" "2439" "10887064" "10974542" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SYCP2L" "04187" ## 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}}" "00261157" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "F" "" "" "" "0" "" "" "" "Pat4" "00332516" "" "" "" "1" "" "00006" "{PMID:He 2021:32303603}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "China" "" "0" "" "" "" "FamP0001" "00332517" "" "" "" "1" "" "00006" "{PMID:He 2021:32303603}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "China" "" "0" "" "" "" "FamP0005" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00261157" "00198" "00332516" "04187" "00332517" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04187 ## Count = 3 "{{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}}" "0000199666" "00198" "00261157" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000250700" "04187" "00332516" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "premature ovarian insufficiency" "" "0000250701" "04187" "00332517" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "premature ovarian insufficiency" "" ## 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}}" "0000262262" "00261157" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333740" "00332516" "1" "00006" "00006" "2021-02-19 17:24:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000333741" "00332517" "1" "00006" "00006" "2021-02-19 17:24:29" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000262262" "FBXW11" ## 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 = 5 "{{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}}" "0000592540" "21" "50" "6" "10935327" "10935327" "subst" "0.00136025" "00006" "SYCP2L_000001" "g.10935327G>A" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "Germline" "" "" "0" "" "" "g.10935094G>A" "" "VUS" "" "0000592541" "11" "50" "6" "10935384" "10935384" "subst" "4.07637E-6" "00006" "SYCP2L_000002" "g.10935384G>C" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "Germline" "" "" "0" "" "" "g.10935151G>C" "" "VUS" "" "0000731528" "3" "90" "6" "10894175" "10894176" "del" "0" "00006" "SYCP2L_000003" "g.10894175_10894176del" "" "{PMID:He 2021:32303603}" "" "150_151delAG" "" "Germline" "" "" "0" "" "" "g.10893942_10893943del" "" "likely pathogenic (recessive)" "" "0000731529" "3" "70" "6" "10912986" "10912986" "subst" "4.06951E-5" "00006" "SYCP2L_000004" "g.10912986A>G" "" "{PMID:He 2021:32303603}" "" "" "" "Germline" "" "" "0" "" "" "g.10912753A>G" "" "likely pathogenic (recessive)" "" "0001035398" "0" "30" "6" "10902947" "10902947" "subst" "0.00178423" "01804" "SYCP2L_000005" "g.10902947A>G" "" "" "" "SYCP2L(NM_001040274.3):c.504A>G (p.(Leu168=))" "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 SYCP2L ## Count = 5 "{{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}}" "0000592540" "00020617" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Glu574Lys)" "" "0000592541" "00020617" "50" "1777" "0" "1777" "0" "c.1777G>C" "r.(?)" "p.(Ala593Pro)" "" "0000731528" "00020617" "90" "150" "0" "151" "0" "c.150_151del" "r.(?)" "p.(Ser52Profs*7)" "" "0000731529" "00020617" "70" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Ile333Met)" "" "0001035398" "00020617" "30" "504" "0" "504" "0" "c.504A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000262262" "0000592540" "0000262262" "0000592541" "0000333740" "0000731528" "0000333741" "0000731529"