### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DLK1)
# 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}}"
"DLK1"	"delta-like 1 homolog (Drosophila)"	"14"	"q32"	"unknown"	"NG_016863.1"	"UD_132119003111"	""	"http://www.LOVD.nl/DLK1"	""	"1"	"2907"	"8788"	"176290"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/DLK1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-28 22:30:18"	"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}}"
"00006477"	"DLK1"	"delta-like 1 homolog (Drosophila)"	"001"	"NM_003836.5"	""	"NP_003827.3"	""	""	""	"-204"	"1386"	"1152"	"101193202"	"101201467"	""	"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}}"
"00233"	"KOS14"	"Kagami-Ogata syndrome (KOS14, upd(14)pat, Wang-Kagama-Ogata syndrome)"	""	"608149"	""	""	""	"00006"	"2013-10-09 19:32:37"	"00006"	"2015-12-08 23:59:30"
"00234"	"TS14"	"Temple syndrome (TS-14, upd(14)mat)"	""	""	""	""	""	"00006"	"2013-10-09 19:34:25"	"00006"	"2021-12-11 13:56:28"


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


## 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}}"
"00403690"	""	""	""	"2"	""	"00006"	"{PMID:Sabria-Back 2022:33579810},"	"2-generation family, affected mother/child"	"F"	""	"Spain"	""	"0"	""	""	""	"family"
"00403691"	""	""	"00403690"	"1"	""	"00006"	"{PMID:Sabria-Back 2022:33579810}"	"child"	""	""	"Spain"	"00y00m74d"	"0"	""	""	""	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00403690"	"00234"
"00403691"	"00233"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00233, 00234
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Prenatal}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000296385"	"00234"	"00403690"	"00006"	"Unknown"	""	"see paper; ..., short stature (adult height 152 cm);, 7y-precocious puberty (with Decapeptyl GNRH agonist therapy until 13 years), high fasting blood sugar levels consistent with diabetes"	""	""	""	""	""	""	""	""	""	""
"0000296386"	"00233"	"00403691"	"00006"	"Familial, autosomal dominant"	"00y00m74d"	"see papr; ..., 74d-deceased respiratory and infectious complications; prenatal omphalocele, severe polyhydramnios; 26w gestation amniodrainage required to avoid premature delivery, uterine contractions, cervical shortening; placental abruption requiring emergency Caesarean section; birth weight 760g; after birth silo applied to contain omphalocele, 4d-surgical correction completed; 0d-macroglossia,large philtrum, hypersialorrhea, bell-shaped thorax, coat-hanger ribs"	""	""	""	""	""	""	""	""	"KOS14"	"Kagami-Ogata syndrome"


## 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}}"
"0000404929"	"00403690"	"1"	"00006"	"00006"	"2022-02-20 16:43:09"	""	""	"arraySNP;MLPA-ms;PCR;SEQ"	"DNA"	""	""
"0000404930"	"00403691"	"1"	"00006"	"00006"	"2022-02-20 16:55:39"	""	""	"arraySNP;MLPA-ms;PCR;SEQ"	"DNA"	""	""


## 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 = 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}}"
"0000323845"	"0"	"50"	"14"	"101198518"	"101198518"	"subst"	"0.0004628"	"01804"	"DLK1_000002"	"g.101198518C>T"	""	""	""	"DLK1(NM_003836.5):c.402C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100732181C>T"	""	"VUS"	""
"0000679860"	"0"	"30"	"14"	"101201105"	"101201105"	"subst"	"0"	"01943"	"DLK1_000003"	"g.101201105A>G"	""	""	""	"DLK1(NM_003836.6):c.1024A>G (p.M342V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000840898"	"11"	"90"	"14"	"101190852"	"101299551"	"delins"	"0"	"00006"	"DLK1_000004"	"g.101190852_101299551delinsT"	""	"{PMID:Sabria-Back 2022:33579810}"	""	""	""	"Germline"	""	""	"0"	"extensive methylation analysis"	""	"g.100724515_100833214delinsT"	""	"pathogenic (dominant)"	""
"0000840899"	"21"	"90"	"14"	"101190852"	"101299551"	"delins"	"0"	"00006"	"DLK1_000004"	"g.101190852_101299551delinsT"	""	"{PMID:Sabria-Back 2022:33579810}"	""	""	""	"Germline"	""	""	"0"	"extensive methylation analysis"	""	"g.100724515_100833214delinsT"	""	"pathogenic (dominant)"	""
"0001039766"	"0"	"50"	"14"	"101200984"	"101200984"	"subst"	"0"	"01804"	"DLK1_000005"	"g.101200984G>C"	""	""	""	"DLK1(NM_001317172.2):c.685-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 DLK1
## 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}}"
"0000323845"	"00006477"	"50"	"402"	"0"	"402"	"0"	"c.402C>T"	"r.(?)"	"p.(Asn134=)"	""
"0000679860"	"00006477"	"30"	"1024"	"0"	"1024"	"0"	"c.1024A>G"	"r.(?)"	"p.(Met342Val)"	""
"0000840898"	"00006477"	"90"	"0"	"0"	"0"	"0"	"c.-204_*234{0}"	"r.0"	"-"	"_1_5_"
"0000840899"	"00006477"	"90"	"0"	"0"	"0"	"0"	"c.-204_*234{0}"	"r.0"	"p.0"	"_1_5_"
"0001039766"	"00006477"	"50"	"903"	"0"	"903"	"0"	"c.903G>C"	"r.(?)"	"p.(Glu301Asp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000404929"	"0000840898"
"0000404930"	"0000840899"