### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = YWHAE)
# 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}}"
"YWHAE"	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"	"17"	"p13.3"	"unknown"	"NC_000017.10"	"UD_132085315570"	""	"http://www.LOVD.nl/YWHAE"	""	"1"	"12851"	"7531"	"605066"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/YWHAE_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2025-01-14 18:04:54"	"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}}"
"00022989"	"YWHAE"	"transcript variant 1"	"001"	"NM_006761.4"	""	"NP_006752.1"	""	""	""	"-152"	"1675"	"768"	"1303556"	"1247834"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00459554"	""	""	""	"1"	""	"04677"	""	""	"F"	"no"	"Denmark"	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00459554"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## Count = 1
"{{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}}"
"0000347625"	"03187"	"00459554"	"04677"	"Complex"	""	"Mild intellectual disability, polydactyly, short stature"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000461180"	"00459554"	"1"	"04677"	"04677"	"2025-01-10 10:03:13"	""	""	"SEQ-NG"	"DNA"	"Blood"	"WGS"


## 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 = 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}}"
"0000253897"	"0"	"10"	"17"	"1264627"	"1264627"	"del"	"0"	"01943"	"YWHAE_000005"	"g.1264627del"	""	""	""	"YWHAE(NM_006761.4):c.372-20delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361333del"	""	"benign"	""
"0000320088"	"0"	"10"	"17"	"1265285"	"1265285"	"subst"	"0.0235904"	"01943"	"YWHAE_000006"	"g.1265285C>T"	""	""	""	"YWHAE(NM_006761.4):c.282G>A (p.K94=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361991C>T"	""	"benign"	""
"0000320089"	"0"	"30"	"17"	"1264611"	"1264611"	"subst"	"0"	"01943"	"YWHAE_000004"	"g.1264611T>A"	""	""	""	"YWHAE(NM_006761.4):c.372-19A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361317T>A"	""	"likely benign"	""
"0000320090"	"0"	"30"	"17"	"1264520"	"1264520"	"subst"	"0.000158466"	"01943"	"YWHAE_000003"	"g.1264520G>A"	""	""	""	"YWHAE(NM_006761.4):c.444C>T (p.S148=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361226G>A"	""	"likely benign"	""
"0000320091"	"0"	"30"	"17"	"1264430"	"1264430"	"subst"	"0.00108433"	"01943"	"YWHAE_000002"	"g.1264430G>A"	""	""	""	"YWHAE(NM_006761.4):c.534C>T (p.S178=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361136G>A"	""	"likely benign"	""
"0000320092"	"0"	"30"	"17"	"1248777"	"1248777"	"subst"	"0"	"01943"	"YWHAE_000001"	"g.1248777T>C"	""	""	""	"YWHAE(NM_006761.4):c.732A>G (p.K244=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1345483T>C"	""	"likely benign"	""
"0000560286"	"0"	"30"	"17"	"1248793"	"1248793"	"subst"	"4.06971E-6"	"01804"	"YWHAE_000008"	"g.1248793C>A"	""	""	""	"YWHAE(NM_006761.4):c.716G>T (p.(Gly239Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1345499C>A"	""	"likely benign"	""
"0000560289"	"0"	"30"	"17"	"1264418"	"1264418"	"subst"	"0.000418328"	"01943"	"YWHAE_000009"	"g.1264418G>A"	""	""	""	"YWHAE(NM_006761.4):c.546C>T (p.Y182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1361124G>A"	""	"likely benign"	""
"0000560291"	"0"	"10"	"17"	"1265317"	"1265317"	"dup"	"0"	"01943"	"YWHAE_000010"	"g.1265317dup"	""	""	""	"YWHAE(NM_006761.4):c.265-3dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362023dup"	""	"benign"	""
"0000616341"	"0"	"30"	"17"	"1257550"	"1257550"	"subst"	"0"	"01943"	"YWHAE_000011"	"g.1257550A>G"	""	""	""	"YWHAE(NM_006761.4):c.670T>C (p.L224=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1354256A>G"	""	"likely benign"	""
"0000623612"	"0"	"30"	"17"	"1268228"	"1268228"	"subst"	"0"	"01943"	"YWHAE_000012"	"g.1268228G>A"	""	""	""	"YWHAE(NM_006761.4):c.189C>T (p.I63=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1364934G>A"	""	"likely benign"	""
"0000680777"	"0"	"30"	"17"	"1265266"	"1265266"	"subst"	"5.49836E-5"	"01943"	"YWHAE_000013"	"g.1265266G>A"	""	""	""	"YWHAE(NM_006761.4):c.301C>T (p.L101=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854752"	"0"	"10"	"17"	"1264627"	"1264627"	"dup"	"0"	"02325"	"YWHAE_000014"	"g.1264627dup"	""	""	""	"YWHAE(NM_006761.5):c.372-20dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000893347"	"0"	"70"	"17"	"1303402"	"1303402"	"subst"	"0"	"02327"	"YWHAE_000015"	"g.1303402C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001020313"	"0"	"70"	"17"	"0"	"0"	""	""	"04677"	"YWHAE_000016"	"g.pter_1277413delins[NC_000016.9:g.pter_3970809]"	""	""	""	""	"reciprocal translocation between 16p13.3 and 17p13.3, interrupting YWHAE gene"	"De novo"	""	""	"0"	""	""	"g.pter_1374119delins[NC_000016.10:g.pter_3920808"	""	"likely pathogenic"	"ACMG"
"0001041617"	"0"	"50"	"17"	"1248772"	"1248772"	"subst"	"2.03373E-5"	"01804"	"YWHAE_000017"	"g.1248772G>A"	""	""	""	"YWHAE(NM_006761.5):c.737C>T (p.(Ala246Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041620"	"0"	"30"	"17"	"1303335"	"1303335"	"subst"	"0.000505528"	"01804"	"YWHAE_000018"	"g.1303335A>G"	""	""	""	"YWHAE(NM_006761.5):c.64+6T>C"	"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 YWHAE
## 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}}"
"0000253897"	"00022989"	"10"	"372"	"-20"	"372"	"-20"	"c.372-20del"	"r.(=)"	"p.(=)"	""
"0000320088"	"00022989"	"10"	"282"	"0"	"282"	"0"	"c.282G>A"	"r.(?)"	"p.(Lys94=)"	""
"0000320089"	"00022989"	"30"	"372"	"-19"	"372"	"-19"	"c.372-19A>T"	"r.(=)"	"p.(=)"	""
"0000320090"	"00022989"	"30"	"444"	"0"	"444"	"0"	"c.444C>T"	"r.(?)"	"p.(Ser148=)"	""
"0000320091"	"00022989"	"30"	"534"	"0"	"534"	"0"	"c.534C>T"	"r.(?)"	"p.(Ser178=)"	""
"0000320092"	"00022989"	"30"	"732"	"0"	"732"	"0"	"c.732A>G"	"r.(?)"	"p.(Lys244=)"	""
"0000560286"	"00022989"	"30"	"716"	"0"	"716"	"0"	"c.716G>T"	"r.(?)"	"p.(Gly239Val)"	""
"0000560289"	"00022989"	"30"	"546"	"0"	"546"	"0"	"c.546C>T"	"r.(?)"	"p.(Tyr182=)"	""
"0000560291"	"00022989"	"10"	"265"	"-3"	"265"	"-3"	"c.265-3dup"	"r.spl?"	"p.?"	""
"0000616341"	"00022989"	"30"	"670"	"0"	"670"	"0"	"c.670T>C"	"r.(?)"	"p.(Leu224=)"	""
"0000623612"	"00022989"	"30"	"189"	"0"	"189"	"0"	"c.189C>T"	"r.(?)"	"p.(Ile63=)"	""
"0000680777"	"00022989"	"30"	"301"	"0"	"301"	"0"	"c.301C>T"	"r.(?)"	"p.(Leu101=)"	""
"0000854752"	"00022989"	"10"	"372"	"-20"	"372"	"-20"	"c.372-20dup"	"r.(=)"	"p.(=)"	""
"0000893347"	"00022989"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0001020313"	"00022989"	"90"	"65"	"-9061"	"1248509"	"0"	"c.65-9061_*1247741delins[NC_000016.9:g.pter_3970809]"	"r.?"	"p.?"	"1i_6_"
"0001041617"	"00022989"	"50"	"737"	"0"	"737"	"0"	"c.737C>T"	"r.(?)"	"p.(Ala246Val)"	""
"0001041620"	"00022989"	"30"	"64"	"6"	"64"	"6"	"c.64+6T>C"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000461180"	"0001020313"