### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = YEATS2) # 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}}" "YEATS2" "YEATS domain containing 2" "3" "q27.3" "unknown" "NG_054747.1" "UD_136019814686" "" "https://www.LOVD.nl/YEATS2" "" "1" "25489" "55689" "613373" "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/YEATS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-20 10:18:46" "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}}" "00022960" "YEATS2" "YEATS domain containing 2" "001" "NM_018023.4" "" "NP_060493.3" "" "" "" "-195" "6311" "4269" "183415606" "183530413" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" "05588" "FAME4" "epilepsy, myoclonic, familial adult, type 4 (FAME4)" "AD" "615127" "" "" "" "00006" "2019-04-10 21:08:48" "00006" "2019-12-20 10:19:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "YEATS2" "05408" "YEATS2" "05588" ## 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}}" "00271537" "" "" "" "15" "" "00006" "{PMID:Yeetong 2019:31539032}" "3-generation family, 15 affected (6F, 9M), PatIII4" "M" "no" "Thailand" "" "0" "" "" "" "FamPatIII4" "00271539" "" "" "" "260" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271540" "" "" "" "658" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271541" "" "" "" "931" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271542" "" "" "" "366" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271543" "" "" "" "7" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271544" "" "" "" "6" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271545" "" "" "" "1" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271546" "" "" "" "2" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271547" "" "" "" "1" "" "00006" "{PMID:Yeetong 2019:31539032}" "analysis 1116 controls" "" "" "Thailand" "" "0" "" "" "" "controls" "00271549" "" "" "" "14" "" "00006" "{PMID:Yeetong 2019:31539032}" "" "" "" "Thailand" "" "0" "" "" "" "FamPats" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00271537" "05408" "00271539" "00000" "00271540" "00000" "00271541" "00000" "00271542" "00000" "00271543" "00000" "00271544" "00000" "00271545" "00000" "00271546" "00000" "00271547" "00000" "00271549" "05408" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05408, 05588 ## Count = 1 "{{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}}" "0000208124" "05408" "00271537" "00006" "Familial, autosomal dominant" "" "15/15 cortical tremor, 10/15 seizures" "" "" "" "" "" "" "" "FAME4" "benign adult familial myoclonic epilepsy" ## 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}}" "0000272691" "00271537" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCRrp;SEQ;SEQ-NG;SEQ-PB;Southern" "DNA" "" "" "0000272693" "00271539" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272694" "00271540" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272695" "00271541" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272696" "00271542" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272697" "00271543" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272698" "00271544" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272699" "00271545" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272700" "00271546" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272701" "00271547" "1" "00006" "00006" "2019-12-20 09:46:08" "" "" "PCRlr;PCR" "DNA" "" "" "0000272703" "00271549" "1" "00006" "00006" "2019-12-20 10:47:01" "" "" "PCRlr;PCRrp" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000272691" "YEATS2" "0000272693" "YEATS2" "0000272694" "YEATS2" "0000272695" "YEATS2" "0000272696" "YEATS2" "0000272697" "YEATS2" "0000272698" "YEATS2" "0000272699" "YEATS2" "0000272700" "YEATS2" "0000272701" "YEATS2" "0000272703" "YEATS2" ## 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 = 17 "{{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}}" "0000518593" "0" "10" "3" "183493770" "183493772" "del" "0" "01943" "YEATS2_000001" "g.183493770_183493772del" "" "" "" "YEATS2(NM_018023.4):c.2436_2438delAGG (p.G814del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183775982_183775984del" "" "benign" "" "0000626634" "21" "90" "3" "0" "0" "" "0" "00006" "YEATS2_000002" "g.183429980_183430014ATTTT[(690_820)]ATTTC[(190_250)]" "" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183712192_183712226ATTTT[(690_820)]ATTTC[(190_250)]" "" "pathogenic (dominant)" "" "0000626635" "11" "10" "3" "0" "0" "" "0" "00006" "YEATS2_000003" "g.183429980_183430014ATTTT[(6_59)]" "" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "no" "" "0" "" "" "g.183712192_183712226ATTTT[(6_59)]" "" "benign" "" "0000626636" "1" "10" "3" "" "" "" "" "00006" "YEATS2_000005" "g.183712192_183712226ATTTT[4_20]" "260/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[4_20]" "" "benign" "" "0000626637" "1" "10" "3" "" "" "" "" "00006" "YEATS2_000006" "g.183712192_183712226ATTTT[21_40]" "658/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[21_40]" "" "benign" "" "0000626638" "1" "10" "3" "" "" "" "" "00006" "YEATS2_000007" "g.183712192_183712226ATTTT[41_60]" "931/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[41_60]" "" "benign" "" "0000626639" "1" "10" "3" "" "" "" "" "00006" "YEATS2_000008" "g.183712192_183712226ATTTT[61_80]" "366/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[61_80]" "" "benign" "" "0000626640" "1" "10" "3" "" "" "" "" "00006" "YEATS2_000009" "g.183712192_183712226ATTTT[81_100]" "7/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[81_100]" "" "benign" "" "0000626641" "1" "10" "3" "" "" "" "" "00006" "YEATS2_000010" "g.183712192_183712226ATTTT[101_120]" "6/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[101_120]" "" "benign" "" "0000626642" "1" "30" "3" "183712192" "183712226" "" "0" "00006" "YEATS2_000011" "g.183712192_183712226ATTTT[719]" "1/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[719]" "" "likely benign" "" "0000626643" "1" "30" "3" "183712192" "183712226" "" "0" "00006" "YEATS2_000012" "g.183712192_183712226ATTTT[919]" "2/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[919]" "" "likely benign" "" "0000626644" "1" "30" "3" "183712192" "183712226" "" "0" "00006" "YEATS2_000013" "g.183712192_183712226ATTTT[1219]" "1/2232 control chromosomes" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "" "" "0" "" "" "g.183429980_183430014ATTTT[1219]" "" "likely benign" "" "0000626648" "1" "90" "3" "183429928" "183430313" "" "0" "00006" "YEATS2_000004" "g.(183429928_183430313)insN[(4600_7600)]" "" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(183712140_183712525)insN[(4600_7600)]" "" "pathogenic (dominant)" "" "0000626649" "2" "10" "3" "0" "0" "" "0" "00006" "YEATS2_000003" "g.183429980_183430014ATTTT[(6_59)]" "" "{PMID:Yeetong 2019:31539032}" "" "" "" "Germline" "no" "" "0" "" "" "g.183712192_183712226ATTTT[(6_59)]" "" "benign" "" "0001033819" "0" "50" "3" "183442304" "183442304" "del" "0" "01804" "YEATS2_000014" "g.183442304del" "" "" "" "YEATS2(NM_018023.5):c.635del (p.(Val212Glyfs*66))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033820" "0" "30" "3" "183474466" "183474466" "subst" "0.000124561" "02325" "YEATS2_000015" "g.183474466C>T" "" "" "" "YEATS2(NM_018023.5):c.1541C>T (p.T514I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033821" "0" "30" "3" "183490563" "183490566" "dup" "0" "01804" "YEATS2_000016" "g.183490563_183490566dup" "" "" "" "YEATS2(NM_018023.5):c.2206+212_2206+215dup" "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 YEATS2 ## Count = 17 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000518593" "00022960" "10" "2436" "0" "2438" "0" "c.2436_2438del" "r.(?)" "p.(Gly814del)" "" "" "0000626634" "00022960" "90" "0" "0" "0" "0" "c.-19-2952_-19-2918ATTTT[(690_820)]ATTTC[(190_250)]" "r.(?)" "p.(?)" "1i" "ATTTT[(690_820)]ATTTC[(190_250)]" "0000626635" "00022960" "10" "0" "0" "0" "0" "c.-19-2952_-19-2918ATTTT[(6_59)]" "r.(=)" "p.(=)" "1i" "ATTTT[(6_59)]" "0000626636" "00022960" "10" "" "0" "" "0" "c.-19-2952_-19-2918ATTTT[4_20]" "r.(=)" "p.(=)" "1i" "ATTTT[4_20]" "0000626637" "00022960" "10" "" "0" "" "0" "c.-19-2952_-19-2918ATTTT[21_40]" "r.(=)" "p.(=)" "1i" "ATTTT[21_40]" "0000626638" "00022960" "10" "" "0" "" "0" "c.-19-2952_-19-2918ATTTT[41_60]" "r.(=)" "p.(=)" "1i" "ATTTT[41_60]" "0000626639" "00022960" "10" "" "0" "" "0" "c.-19-2952_-19-2918ATTTT[61_80]" "r.(=)" "p.(=)" "1i" "ATTTT[61_80]" "0000626640" "00022960" "10" "" "0" "" "0" "c.-19-2952_-19-2918ATTTT[81_100]" "r.(=)" "p.(=)" "1i" "ATTTT[81_100]" "0000626641" "00022960" "10" "" "0" "" "0" "c.-19-2952_-19-2918ATTTT[101_120]" "r.(=)" "p.(=)" "1i" "ATTTT[101_120]" "0000626642" "00022960" "30" "-19" "-2952" "-19" "-2918" "c.-19-2952_-19-2918ATTTT[719]" "r.(=)" "p.(=)" "1i" "ATTTT[719]" "0000626643" "00022960" "30" "-19" "-2952" "-19" "-2918" "c.-19-2952_-19-2918ATTTT[919]" "r.(=)" "p.(=)" "1i" "ATTTT[919]" "0000626644" "00022960" "30" "-19" "-2952" "-19" "-2918" "c.-19-2952_-19-2918ATTTT[1219]" "r.(=)" "p.(=)" "1i" "ATTTT[1219]" "0000626648" "00022960" "90" "-19" "-3004" "-19" "-2619" "c.(-19-3004_-19-2619)ins(4600_7600)" "r.(=)" "p.(=)" "" "ATTTT/ATTTC[(920_1520)]" "0000626649" "00022960" "10" "0" "0" "0" "0" "c.-19-2952_-19-2918ATTTT[(6_59)]" "r.(=)" "p.(=)" "1i" "ATTTT[(6_59)]" "0001033819" "00022960" "50" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Val212Glyfs*66)" "" "" "0001033820" "00022960" "30" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Thr514Ile)" "" "" "0001033821" "00022960" "30" "2206" "212" "2206" "215" "c.2206+212_2206+215dup" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000272691" "0000626634" "0000272691" "0000626635" "0000272693" "0000626636" "0000272694" "0000626637" "0000272695" "0000626638" "0000272696" "0000626639" "0000272697" "0000626640" "0000272698" "0000626641" "0000272699" "0000626642" "0000272700" "0000626643" "0000272701" "0000626644" "0000272703" "0000626648" "0000272703" "0000626649"