### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HAND2)
# 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}}"
"HAND2"	"heart and neural crest derivatives expressed 2"	"4"	"q33"	"unknown"	"NC_000004.11"	"UD_136087386202"	""	"https://www.LOVD.nl/HAND2"	""	"1"	"4808"	"9464"	"602407"	"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/HAND2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2026-02-10 09:34:23"	"00000"	"2026-06-01 11:04:03"


## 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}}"
"00009139"	"HAND2"	"heart and neural crest derivatives expressed 2"	"001"	"NM_021973.2"	""	"NP_068808.1"	""	""	""	"-938"	"1430"	"654"	"174451378"	"174447652"	""	"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}}"
"00352"	"CMD"	"cardiomyopathy, dilated (CMD)"	""	""	""	""	""	"00006"	"2014-03-13 16:16:15"	"00006"	"2015-03-06 17:18:25"
"04203"	"ATFB"	"fibrillation, atrial (ATFB)"	""	""	""	""	""	"00006"	"2015-02-20 20:57:29"	""	""


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


## 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}}"
"00226566"	""	""	""	"6"	""	"01162"	"{PMID:Liu 2018:30217752}"	"3-generation family, 6 affected (2F, 4M)"	"F;M"	"no"	"China"	""	"0"	""	""	""	"Family 1"
"00472394"	""	""	""	"1"	""	"03465"	""	""	""	"no"	"China"	""	""	""	""	""	""
"00472395"	""	""	""	"1"	""	"03465"	""	""	""	"no"	"China"	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00226566"	"00352"
"00472394"	"04203"
"00472395"	"04203"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00352, 04203
## Count = 3
"{{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}}"
"0000171679"	"00352"	"00226566"	"01162"	"Familial, autosomal dominant"	""	"see paper; ..., dilated cardiomyopathy, congenital heart defects, complete penetrance"	""	""	""	""	""	""	""	""	"dilated cardiomyopathy"
"0000357197"	"04203"	"00472394"	"03465"	"Familial, autosomal dominant"	""	"Familial atrial fibrillation"	""	""	""	""	""	""	""	""	""
"0000357199"	"04203"	"00472395"	"03465"	"Isolated (sporadic)"	""	"Sporadic atrial fibrillation"	""	""	""	""	""	""	""	""	""


## 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}}"
"0000227654"	"00226566"	"1"	"01162"	"00006"	"2018-06-03 04:19:17"	""	""	"SEQ"	"DNA"	""	""
"0000474063"	"00472394"	"1"	"03465"	"03465"	"2026-02-10 02:21:53"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000474064"	"00472395"	"1"	"03465"	"03465"	"2026-02-10 02:53:20"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000227654"	"ABO"
"0000474063"	"HAND2"
"0000474064"	"HAND2"


## 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 = 15
"{{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}}"
"0000330179"	"0"	"50"	"4"	"174450235"	"174450235"	"subst"	"0.000180696"	"01804"	"HAND2_000003"	"g.174450235G>T"	""	""	""	"HAND2(NM_021973.2):c.206C>A (p.(Ala69Asp)), HAND2(NM_021973.3):c.206C>A (p.A69D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.173529084G>T"	""	"VUS"	""
"0000330180"	"0"	"50"	"4"	"174450378"	"174450380"	"dup"	"0"	"01804"	"HAND2_000007"	"g.174450378_174450380dup"	""	""	""	"HAND2(NM_021973.2):c.77_78insCGC (p.(Ala26dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.173529227_173529229dup"	""	"VUS"	""
"0000330181"	"0"	"50"	"4"	"174450380"	"174450380"	"subst"	"0.000250445"	"01804"	"HAND2_000005"	"g.174450380C>T"	""	""	""	"HAND2(NM_021973.2):c.61G>A (p.(Ala21Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.173529229C>T"	""	"VUS"	""
"0000467872"	"2"	"90"	"4"	"174450242"	"174450242"	"subst"	"0"	"01162"	"HAND2_000001"	"g.174450242C>A"	""	"{PMID:Liu 2018:30217752}"	""	""	"segregates with complete penetrance; variant not in 300 healthy controls; in vitro functional studies indicate disrupted normal transcriptional function"	"Germline"	"yes"	""	"0"	""	""	"g.173529091C>A"	""	"pathogenic (dominant)"	""
"0000522036"	"0"	"50"	"4"	"174448488"	"174448488"	"subst"	"2.45867E-5"	"01804"	"HAND2_000002"	"g.174448488C>G"	""	""	""	"HAND2(NM_021973.3):c.594G>C (p.(Lys198Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.173527337C>G"	""	"VUS"	""
"0000522037"	"0"	"30"	"4"	"174450235"	"174450235"	"subst"	"0.000180696"	"02327"	"HAND2_000003"	"g.174450235G>T"	""	""	""	"HAND2(NM_021973.2):c.206C>A (p.(Ala69Asp)), HAND2(NM_021973.3):c.206C>A (p.A69D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.173529084G>T"	""	"likely benign"	""
"0000609118"	"0"	"50"	"4"	"174448488"	"174448488"	"subst"	"2.45867E-5"	"02327"	"HAND2_000002"	"g.174448488C>G"	""	""	""	"HAND2(NM_021973.3):c.594G>C (p.(Lys198Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.173527337C>G"	""	"VUS"	""
"0000609119"	"0"	"50"	"4"	"174450361"	"174450381"	"del"	"0"	"02327"	"HAND2_000006"	"g.174450361_174450381del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.173529210_173529230del"	""	"VUS"	""
"0000689259"	"0"	"50"	"4"	"174450428"	"174450428"	"subst"	"0"	"02326"	"HAND2_000008"	"g.174450428C>T"	""	""	""	"HAND2(NM_021973.3):c.13G>A (p.G5S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924084"	"0"	"50"	"4"	"174450235"	"174450235"	"subst"	"0.000180696"	"02325"	"HAND2_000003"	"g.174450235G>T"	""	""	""	"HAND2(NM_021973.2):c.206C>A (p.(Ala69Asp)), HAND2(NM_021973.3):c.206C>A (p.A69D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994184"	"0"	"50"	"4"	"174450151"	"174450151"	"subst"	"2.98312E-5"	"01804"	"HAND2_000009"	"g.174450151G>C"	""	""	""	"HAND2(NM_021973.2):c.290C>G (p.(Pro97Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001024904"	"0"	"50"	"4"	"174450462"	"174450462"	"subst"	"0"	"02325"	"HAND2_000010"	"g.174450462C>T"	""	""	""	"HAND2(NM_021973.3):c.-22G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001068177"	"0"	"90"	"4"	"174450303"	"174450303"	"subst"	"0"	"03465"	"HAND2_000011"	"g.174450303C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.173529152C>T"	""	"pathogenic"	"ACMG"
"0001068178"	"0"	"90"	"4"	"174450104"	"174450104"	"subst"	"0"	"03465"	"HAND2_000012"	"g.174450104G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.173528953G>A"	""	"pathogenic"	"ACMG"
"0001078321"	"0"	"50"	"4"	"174450046"	"174450046"	"subst"	"0"	"03779"	"HAND2_000013"	"g.174450046T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"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 HAND2
## Count = 15
"{{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}}"
"0000330179"	"00009139"	"50"	"206"	"0"	"206"	"0"	"c.206C>A"	"r.(?)"	"p.(Ala69Asp)"	""
"0000330180"	"00009139"	"50"	"75"	"0"	"77"	"0"	"c.75_77dup"	"r.(?)"	"p.(Ala32dup)"	""
"0000330181"	"00009139"	"50"	"61"	"0"	"61"	"0"	"c.61G>A"	"r.(?)"	"p.(Ala21Thr)"	""
"0000467872"	"00009139"	"90"	"199"	"0"	"199"	"0"	"c.199G>T"	"r.(?)"	"p.(Glu67*)"	""
"0000522036"	"00009139"	"50"	"594"	"0"	"594"	"0"	"c.594G>C"	"r.(?)"	"p.(Lys198Asn)"	""
"0000522037"	"00009139"	"30"	"206"	"0"	"206"	"0"	"c.206C>A"	"r.(?)"	"p.(Ala69Asp)"	""
"0000609118"	"00009139"	"50"	"594"	"0"	"594"	"0"	"c.594G>C"	"r.(?)"	"p.(Lys198Asn)"	""
"0000609119"	"00009139"	"50"	"76"	"0"	"96"	"0"	"c.76_96del"	"r.(?)"	"p.(Ala26_Ala32del)"	""
"0000689259"	"00009139"	"50"	"13"	"0"	"13"	"0"	"c.13G>A"	"r.(?)"	"p.(Gly5Ser)"	""
"0000924084"	"00009139"	"50"	"206"	"0"	"206"	"0"	"c.206C>A"	"r.(?)"	"p.(Ala69Asp)"	""
"0000994184"	"00009139"	"50"	"290"	"0"	"290"	"0"	"c.290C>G"	"r.(?)"	"p.(Pro97Arg)"	""
"0001024904"	"00009139"	"50"	"-22"	"0"	"-22"	"0"	"c.-22G>A"	"r.(?)"	"p.(=)"	""
"0001068177"	"00009139"	"90"	"138"	"0"	"138"	"0"	"c.138G>A"	"r.(138G>A)"	"p.(Trp46Ter)"	""
"0001068178"	"00009139"	"90"	"337"	"0"	"337"	"0"	"c.337C>T"	"r.(337C>T)"	"p.(Gln113Ter)"	""
"0001078321"	"00009139"	"50"	"395"	"0"	"395"	"0"	"c.395A>T"	"r.(?)"	"p.(Asp132Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000227654"	"0000467872"
"0000474063"	"0001068177"
"0000474064"	"0001068178"