### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = YWHAZ)
# 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}}"
"YWHAZ"	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	"8"	"q22.3"	"unknown"	"NC_000008.10"	"UD_136095351609"	""	"https://www.LOVD.nl/YWHAZ"	""	"1"	"12855"	"7534"	"601288"	"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/YWHAZ_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2021-05-28 11:02:54"	"00000"	"2024-08-28 13:16:32"


## 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}}"
"00022993"	"YWHAZ"	"transcript variant 2"	"003"	"NM_145690.2"	""	"NP_663723.1"	""	""	""	"-212"	"2855"	"738"	"101964357"	"101930804"	""	"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 = 7
"{{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}}"
"00373789"	""	""	""	"2"	""	"01864"	""	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	"iw182"
"00373790"	""	""	""	"2"	""	"01864"	""	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	"iw185"
"00375003"	""	""	""	"1"	""	"00006"	"{PMID:Popov 2019:31024343}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00375004"	""	""	""	"1"	""	"00006"	"{PMID:Popov 2019:31024343}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00375005"	""	""	""	"1"	""	"00006"	"{PMID:Popov 2019:31024343}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00375006"	""	""	""	"1"	""	"00006"	"{PMID:Popov 2019:31024343}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00375007"	""	""	""	"1"	""	"00006"	"{PMID:Popov 2019:31024343}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}"	"{{diseaseid}}"
"00373789"	"00198"
"00373790"	"00198"
"00375003"	"00198"
"00375004"	"00198"
"00375005"	"00198"
"00375006"	"00198"
"00375007"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## Count = 7
"{{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}}"
"0000269000"	"05910"	"00373789"	"01864"	"Familial"	""	"HP:0000035; HP:0000054; HP:0001249; HP:0430023; HP:0002500; HP:3000040; HP:0012768; HP:0000750; HP:0002194"	""	""	""	""	""	""	""	""	"Popov-chang syndrome  PubMed: 31024343"	""	""
"0000269001"	"00198"	"00373790"	"01864"	"Familial"	""	"HP:0004324; HP:0001249; HP:0000238; HP:0012768; HP:0025336; HP:0032989"	""	""	""	""	""	""	""	""	"Popov-chang syndrome"	""	""
"0000270213"	"00198"	"00375003"	"00006"	"Isolated (sporadic)"	"9y"	"born 33w, FTT, GE reflux, G-tube, otitis media with myringotomy tube, hypogammoglobinemia and lymphopenia, hyperkeratosis pilaris, dry skin; short stature, <5%ile; weight <5%ile; developmental delay; motor delay, walk-4y; almost no speech; autistic-like behavior, self-injurious behavior, irritability; ptosis, proptosis with long philtrum, thick lips, high forehead, triangular facies, coarse/curly hair, sparse eyebrows; mild scoliosis; congenital mild pulmonic stenosis; seizures; negative panels for RASopathies"	""	""	""	""	""	""	""	""	""	"cardiofaciocutaneous syndrome"	""
"0000270214"	"00198"	"00375004"	"00006"	"Isolated (sporadic)"	"12y"	"feeding difficulties, hyperventilation when anxious; OFC normal; short stature; low weight; developmental delay; motor delay; almost no speech; triangular face, mild ptosis; 10-11y-seizures; negative RASopathy panel"	""	""	""	""	""	""	""	""	""	"cardiofaciocutaneous syndrome"	""
"0000270215"	"00198"	"00375005"	"00006"	"Isolated (sporadic)"	"17y"	"height -1 SD; weight +2.5 SD; developmental delay; mild motor delay; intellectual disability; ; <14y-generalized tonic-clonic epilepsy"	""	""	""	""	""	""	""	""	""	"cardiofaciocutaneous syndrome"	""
"0000270216"	"00198"	"00375006"	"00006"	"Isolated (sporadic)"	"9y"	"short fifth digits, sleep issues; height +1 SD; developmental delay; motor delay; intellectual disability (IQ 55); speechdelay, language delay; obsessive, no concentration, fear, difficulty in making contact; abundant hair, coarse facial features, frontal bossing; no cardiac anomalies"	""	""	""	""	""	""	""	""	""	"cardiofaciocutaneous syndrome"	""
"0000270217"	"00198"	"00375007"	"00006"	"Isolated (sporadic)"	"17y"	"birth 30w due to non-immune hydrops fetalis and HELLP in mother; retinopathy and cataracts; OFC <-2.5 SD; height 0 SD; developmental delay; almost no speech; autism, behavioral problems, sleep issues; ; no cardiac anomalies"	""	""	""	""	""	""	""	""	""	"cardiofaciocutaneous syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000375022"	"00373789"	"1"	"01864"	"01864"	"2021-05-20 08:35:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"WGS"
"0000375023"	"00373790"	"1"	"01864"	"01864"	"2021-05-20 08:40:32"	""	""	"SEQ-NG"	"DNA"	"blood"	"WGS"
"0000376197"	"00375003"	"1"	"00006"	"00006"	"2021-05-28 11:34:47"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376198"	"00375004"	"1"	"00006"	"00006"	"2021-05-28 11:34:47"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376199"	"00375005"	"1"	"00006"	"00006"	"2021-05-28 11:34:47"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376200"	"00375006"	"1"	"00006"	"00006"	"2021-05-28 11:34:47"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376201"	"00375007"	"1"	"00006"	"00006"	"2021-05-28 11:34:47"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000375022"	"YWHAZ"
"0000375023"	"YWHAZ"


## 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 = 10
"{{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}}"
"0000332263"	"0"	"50"	"8"	"101932971"	"101932972"	"dup"	"0"	"01804"	"YWHAZ_000001"	"g.101932971_101932972dup"	""	""	""	"YWHAZ(NM_001135699.1):c.688_689insAT (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100920743_100920744dup"	""	"VUS"	""
"0000332264"	"0"	"50"	"8"	"101936511"	"101936511"	"subst"	"0"	"01804"	"YWHAZ_000002"	"g.101936511G>A"	""	""	""	"YWHAZ(NM_003406.3):c.434C>T (p.(Ser145Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100924283G>A"	""	"VUS"	""
"0000332265"	"0"	"50"	"8"	"101961078"	"101961078"	"subst"	"0"	"01804"	"YWHAZ_000003"	"g.101961078C>A"	""	""	""	"YWHAZ(NM_001135699.1):c.40G>T (p.(Glu14Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100948850C>A"	""	"VUS"	""
"0000786028"	"0"	"90"	"8"	"101961078"	"101961078"	"subst"	"0"	"01864"	"YWHAZ_000005"	"g.101961078C>T"	""	""	"wjqiu"	""	"candidate disease causing gene"	"De novo"	"yes"	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000786029"	"11"	"90"	"8"	"101961078"	"101961078"	"subst"	"0"	"01864"	"YWHAZ_000005"	"g.101961078C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000787784"	"0"	"75"	"8"	"101932970"	"101932970"	"subst"	"0"	"00006"	"YWHAZ_000006"	"g.101932970G>C"	""	"{PMID:Popov 2019:31024343}"	""	""	"re-classified to VUS on request by authors in OMIM"	"De novo"	""	""	"0"	""	""	"g.100920742G>C"	""	"likely pathogenic (!)"	""
"0000787785"	"0"	"75"	"8"	"101960961"	"101960961"	"subst"	"0"	"00006"	"YWHAZ_000007"	"g.101960961C>T"	""	"{PMID:Popov 2019:31024343}"	""	""	"re-classified to VUS on request by authors in OMIM"	"De novo"	""	""	"0"	""	""	"g.100948733C>T"	""	"likely pathogenic (!)"	""
"0000787786"	"0"	"75"	"8"	"101936511"	"101936511"	"subst"	"0"	"00006"	"YWHAZ_000002"	"g.101936511G>A"	""	"{PMID:Popov 2019:31024343}"	""	""	"re-classified to VUS on request by authors in OMIM"	"De novo"	""	""	"0"	""	""	"g.100924283G>A"	""	"likely pathogenic (!)"	""
"0000787787"	"0"	"75"	"8"	"101961078"	"101961078"	"subst"	"0"	"00006"	"YWHAZ_000003"	"g.101961078C>A"	""	"{PMID:Popov 2019:31024343}"	""	""	"re-classified to VUS on request by authors in OMIM"	"De novo"	""	""	"0"	""	""	"g.100948850C>A"	""	"likely pathogenic (!)"	""
"0000787788"	"0"	"75"	"8"	"101932971"	"101932972"	"dup"	"0"	"00006"	"YWHAZ_000001"	"g.101932971_101932972dup"	""	"{PMID:Popov 2019:31024343}"	""	"688_689insAT"	"re-classified to VUS on request by authors in OMIM"	"De novo"	""	""	"0"	""	""	"g.100920743_100920744dup"	""	"likely 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 YWHAZ
## Count = 10
"{{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}}"
"0000332263"	"00022993"	"50"	"687"	"0"	"688"	"0"	"c.687_688dup"	"r.(?)"	"p.(Ser230TyrfsTer44)"	""
"0000332264"	"00022993"	"50"	"434"	"0"	"434"	"0"	"c.434C>T"	"r.(?)"	"p.(Ser145Leu)"	""
"0000332265"	"00022993"	"50"	"40"	"0"	"40"	"0"	"c.40G>T"	"r.(?)"	"p.(Glu14Ter)"	""
"0000786028"	"00022993"	"90"	"40"	"0"	"40"	"0"	"c.40G>A"	"r.(?)"	"p.(Glu14Lys)"	""
"0000786029"	"00022993"	"90"	"40"	"0"	"40"	"0"	"c.40G>A"	"r.(?)"	"p.(Glu14Lys)"	"2"
"0000787784"	"00022993"	"75"	"689"	"0"	"689"	"0"	"c.689C>G"	"r.(?)"	"p.(Ser230Trp)"	""
"0000787785"	"00022993"	"75"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Gly53Arg)"	""
"0000787786"	"00022993"	"75"	"434"	"0"	"434"	"0"	"c.434C>T"	"r.(?)"	"p.(Ser145Leu)"	""
"0000787787"	"00022993"	"75"	"40"	"0"	"40"	"0"	"c.40G>T"	"r.(?)"	"p.(Glu14Ter)"	""
"0000787788"	"00022993"	"75"	"687"	"0"	"688"	"0"	"c.687_688dup"	"r.(?)"	"p.(Ser230TyrfsTer44)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{variantid}}"
"0000375022"	"0000786028"
"0000375023"	"0000786029"
"0000376197"	"0000787784"
"0000376198"	"0000787785"
"0000376199"	"0000787786"
"0000376200"	"0000787787"
"0000376201"	"0000787788"