### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = H19)
# 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}}"
"H19"	"H19, imprinted maternally expressed transcript (non-protein coding)"	"11"	"p15.5"	"paternal"	"NG_016165.1"	"UD_134061689260"	""	"http://www.LOVD.nl/H19"	""	"1"	"4713"	"283120"	"103280"	"1"	"1"	"1"	"1"	""	""	"g"	"http://www.ncbi.nlm.nih.gov/nuccore/NG_016165.1"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-06-25 00:00:00"	"00006"	"2014-12-29 12:47:22"	"00006"	"2018-11-03 09:47:35"


## 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}}"
"00000237"	"H19"	"H19, imprinted maternally expressed transcript (non-protein coding)"	"001"	"NR_002196.1"	""	""	""	""	""	"1"	"2308"	"2308"	"2019065"	"2016406"	"00008"	"2012-06-25 11:35:21"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00231"	"BWS"	"Beckwith-Wiedemann syndrome (BWS)"	"AD"	"130650"	""	""	""	"00006"	"2013-10-09 19:27:53"	"00006"	"2021-12-10 21:51:32"
"00232"	"SRS;RSS"	"Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))"	"AD"	"180860"	""	""	""	"00006"	"2013-10-09 19:30:21"	"00006"	"2021-12-10 21:51:32"
"00774"	"WT1"	"Wilms tumor, type 1, somatic (WT-1, nephroblastoma)"	"AD;SMu"	"194070"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00952"	"WT2"	"Wilms tumor, type 2 (WT-2)"	"AD;SMu"	"194071"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"H19"	"00231"
"H19"	"00774"
"H19"	"00952"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00027197"	""	""	""	"1"	""	"00006"	"{PMID:Kagami 2014:25351781}"	""	"M"	"no"	"Japan"	""	"0"	""	""	""	""
"00027198"	""	""	""	"1"	""	"00006"	"{PMID:Kagami 2014:25351781}"	"in vitro fertilization-embryo transfer"	"F"	"no"	"Japan"	""	"0"	""	"7y-gonadotropin-releasing hormone analog (precocious puberty, breast development)"	""	""
"00080090"	""	""	""	"1"	""	"01594"	"{PMID:Grønskov 2010:21278389}, for EUCID-SRS consortium"	""	"M"	""	""	""	"0"	""	""	""	"21278389-Pat1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00027197"	"00232"
"00027198"	"00232"
"00080090"	"00232"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00231, 00232, 00774, 00952
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Head/Microcephaly}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Feeding/Problems}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}"	"{{Phenotype/Asymmetry/Body}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000023270"	"00232"	"00027197"	"00006"	"Isolated (sporadic)"	"09y06m"	"karyotype 46XY, birth length 46.5cm (-2.1 SD), birth weight 2.2 kg (-2.7 SD), birth occipitofrontal circumference 32.5cm (-0.7 SD); present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079);  no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220)"	""	"macrocephaly congenital"	"41w"	"nr"	""	""	""	"small"	""	""	""	"growth retardation (postnatal)"	"asymmetric growth"	"clinical SRS (Netchine Harbison-Score 5/6"	"SRS-like"
"0000023271"	"00232"	"00027198"	"00006"	"Isolated (sporadic)"	"09y02m"	"karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220)"	""	"macrocephaly congenital"	"37w"	"nr"	""	""	""	"small"	""	""	""	"growth retardation (postnatal)"	"asymmetric growth"	"clinical SRS (Netchine Harbison-Score 5/6"	"SRS-like"
"0000059666"	"00232"	"00080090"	"01594"	"Unknown"	""	"prominent forehead (HP:0011220)"	""	"macrocephaly congenital"	""	"feeding problems"	""	""	""	"small"	""	""	""	"growth retardation (postnatal)"	"no asymmetric growth"	"SRS (Netchine Harbison-Score 5/6)"	"SRS"


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000027203"	"00027197"	"1"	"00006"	"00006"	"2014-12-28 22:03:48"	"00006"	"2014-12-29 15:05:42"	"SEQp"	"DNA"	"leukocytes"	""
"0000027206"	"00027198"	"1"	"00006"	"00006"	"2014-12-28 22:03:48"	"00006"	"2014-12-29 17:04:47"	"SEQp"	"DNA"	"leukocytes"	""
"0000080173"	"00080090"	"1"	"01594"	"00008"	"2016-09-01 17:30:25"	""	""	"arrayCNV; microscope; MLPA"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}"	"{{geneid}}"
"0000027203"	"GNAS"
"0000027203"	"H19"
"0000027203"	"KCNQ1"
"0000027203"	"MEG3"
"0000027203"	"MEST"
"0000027203"	"PLAGL1"
"0000027203"	"SNRPN"
"0000027206"	"GNAS"
"0000027206"	"H19"
"0000027206"	"KCNQ1"
"0000027206"	"MEG3"
"0000027206"	"MEST"
"0000027206"	"PLAGL1"
"0000027206"	"SNRPN"


## 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 = 6
"{{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}}"
"0000050366"	"10"	"70"	"11"	"2023866"	"2023866"	""	"0"	"00006"	"H19_000001"	"g.2023866|bsr"	""	"{PMID:Kagami 2014:25351781}"	""	"H19-DMR CG1"	"normal methylation H19-DMR"	"Somatic"	""	""	"0"	"0.51 (controls 0.37-0.60)"	""	""	""	"likely pathogenic"	""
"0000050367"	"10"	"70"	"11"	"2023856"	"2023856"	""	"0"	"00006"	"H19_000002"	"g.2023856|bsr"	""	"{PMID:Kagami 2014:25351781}"	""	"H19-DMR CG2"	"normal methylation H19-DMR"	"Somatic"	""	""	"0"	"0.51 (controls 0.39-0.64)"	""	""	""	"likely pathogenic"	""
"0000050368"	"10"	"70"	"11"	"2023854"	"2023854"	""	"0"	"00006"	"H19_000003"	"g.2023854|bsr"	""	"{PMID:Kagami 2014:25351781}"	""	"H19-DMR CG3"	"normal methylation H19-DMR"	"Somatic"	""	""	"0"	"0.49 (controls 0.36-0.57)"	""	""	""	"likely pathogenic"	""
"0000050369"	"10"	"70"	"11"	"2023852"	"2023852"	""	"0"	"00006"	"H19_000004"	"g.2023852|bsr"	""	"{PMID:Kagami 2014:25351781}"	""	"H19-DMR CG4"	"normal methylation H19-DMR"	"Somatic"	""	""	"0"	"0.49 (controls 0.36-0.55)"	""	""	""	"likely pathogenic"	""
"0000050416"	"10"	"70"	"11"	"2023852"	"2023866"	""	"0"	"00006"	"H19_000000"	"g.2023852_2023866|bsr"	""	"{PMID:Kagami 2014:25351781}"	""	"H19-DMR CG1-CG4"	"normal methylation H19-DMR"	"Somatic"	""	""	"0"	"normal levels"	""	""	""	"likely pathogenic"	""
"0000129107"	"0"	"50"	"11"	"0"	"0"	""	"0"	"01594"	"H19_000005"	"g.(pter_1961646)_(2020450_2800000)del"	""	"{PMID:Grønskov 2010:21278389}, for EUCID-SRS consortium"	""	"46,XY arr[hg18] 11p15.5(1,918,222-1,977,026)x1 dn"	"mosaic deletion, affecting H19, part of H19-ICR, endodermal enhancer, skeletal muscle/endordermal enhancer, seventh CTCF binding site"	"Somatic"	""	""	"0"	""	"46,XY.mos arr[hg19] 11p15.5(1,961,646-2,020,450)x1 dn"	""	""	"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 H19
## Count = 6
"{{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}}"
"0000050366"	"00000237"	"70"	"0"	""	"0"	""	"n.-4801bsrC"	"r.="	"-"	"_1"
"0000050367"	"00000237"	"70"	"0"	""	"0"	""	"n.-4791bsrC"	"r.="	"-"	"_1"
"0000050368"	"00000237"	"70"	"0"	""	"0"	""	"n.-4789bsrC"	"r.="	"-"	"_1"
"0000050369"	"00000237"	"70"	"0"	""	"0"	""	"n.-4787bsrC"	"r.="	"-"	"_1"
"0000050416"	"00000237"	"70"	"0"	""	"0"	""	"n.-4801_-4787bsrC"	"r.="	"-"	"_1"
"0000129107"	"00000237"	"50"	"1"	"0"	"1"	"0"	"n.0"	"r.0"	"-"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000027203"	"0000050366"
"0000027203"	"0000050367"
"0000027203"	"0000050368"
"0000027203"	"0000050369"
"0000027206"	"0000050416"
"0000080173"	"0000129107"