### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZFP36L2) # 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}}" "ZFP36L2" "ZFP36 ring finger protein-like 2" "2" "p22.3-p21" "unknown" "NC_000002.11" "UD_136095395489" "" "http://www.LOVD.nl/ZFP36L2" "" "1" "1108" "678" "612053" "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/ZFP36L2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-21 14:25:22" "00006" "2024-01-23 18:13:56" ## 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}}" "00023146" "ZFP36L2" "zinc finger protein 36, C3H type-like 2" "001" "NM_006887.4" "" "NP_008818.3" "" "" "" "-291" "3402" "1485" "43453745" "43449541" "" "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}}" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZFP36L2" "05370" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00416011" "" "" "" "1" "" "00006" "{PMID:Zheng 2022:34611029}, {DOI:Zheng 2022:10.1136/jmedgenet-2021-107933}" "3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "China" "" "0" "" "" "" "Pat1" "00416012" "" "" "" "1" "" "00006" "{PMID:Zheng 2022:34611029}, {DOI:Zheng 2022:10.1136/jmedgenet-2021-107933}" "" "F" "yes" "China" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00416011" "05370" "00416012" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05370 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000307776" "05370" "00416012" "00006" "Familial, autosomal recessive" "" "see paper; ..., recurrent preimplantation embryo developmental arrest" "" "" "" "" "" "" "" "recurrent preimplantation embryo developmental arrest" "0000307777" "05370" "00416011" "00006" "Familial, autosomal recessive" "" "see paper; ..., recurrent preimplantation embryo developmental arrest" "" "" "" "" "" "" "" "recurrent preimplantation embryo developmental arrest" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000417291" "00416012" "1" "00006" "00006" "2022-08-21 14:32:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417292" "00416011" "1" "00006" "00006" "2022-08-21 14:32:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{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}}" "0000621041" "0" "30" "2" "43451730" "43451730" "subst" "0.000160831" "01943" "ZFP36L2_000002" "g.43451730G>A" "" "" "" "ZFP36L2(NM_006887.5):c.1213C>T (p.P405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43224591G>A" "" "likely benign" "" "0000621042" "0" "30" "2" "43451995" "43451995" "subst" "0" "01943" "ZFP36L2_000003" "g.43451995C>T" "" "" "" "ZFP36L2(NM_006887.5):c.948G>A (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43224856C>T" "" "likely benign" "" "0000800606" "0" "30" "2" "43452516" "43452516" "subst" "3.26432E-5" "01943" "ZFP36L2_000004" "g.43452516C>A" "" "" "" "ZFP36L2(NM_006887.5):c.427G>T (p.G143W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800607" "0" "30" "2" "43452666" "43452666" "subst" "0" "01943" "ZFP36L2_000005" "g.43452666C>T" "" "" "" "ZFP36L2(NM_006887.5):c.277G>A (p.G93S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876920" "3" "90" "2" "43452016" "43452024" "del" "0" "00006" "ZFP36L2_000006" "g.43452016_43452024del" "" "{PMID:Zheng 2022:34611029}, {DOI:Zheng 2022:10.1136/jmedgenet-2021-107933}" "" "" "" "Germline" "" "" "0" "" "" "g.43224877_43224885del" "" "pathogenic (recessive)" "" "0000876921" "10" "90" "2" "43452016" "43452024" "del" "0" "00006" "ZFP36L2_000006" "g.43452016_43452024del" "" "{PMID:Zheng 2022:34611029}, {DOI:Zheng 2022:10.1136/jmedgenet-2021-107933}" "" "" "" "Germline" "" "" "0" "" "" "g.43224877_43224885del" "" "pathogenic (recessive)" "" "0000876922" "21" "70" "2" "43452021" "43452021" "subst" "0.00013542" "00006" "ZFP36L2_000007" "g.43452021A>C" "" "{PMID:Zheng 2022:34611029}, {DOI:Zheng 2022:10.1136/jmedgenet-2021-107933}" "" "" "" "Germline" "" "" "0" "" "" "g.43224882A>C" "" "likely pathogenic (recessive)" "" ## 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 ZFP36L2 ## Count = 8 "{{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}}" "0000621041" "00023146" "30" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Pro405Ser)" "" "0000621042" "00023146" "30" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Ser316=)" "" "0000800606" "00023146" "30" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Gly143Trp)" "" "0000800607" "00023146" "30" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0000829418" "00023146" "50" "-8388608" "0" "8388607" "0" "c.-18627727_*15851050dup" "r.0?" "p.0?" "" "0000876920" "00023146" "90" "922" "0" "930" "0" "c.922_930del" "r.(?)" "p.(Ser308_Ser310del)" "" "0000876921" "00023146" "90" "922" "0" "930" "0" "c.922_930del" "r.(?)" "p.(Ser308_Ser310del)" "" "0000876922" "00023146" "70" "922" "0" "922" "0" "c.922T>G" "r.(?)" "p.(Ser308Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000417291" "0000876921" "0000417291" "0000876922" "0000417292" "0000876920"