### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HS3ST6)
# 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}}"
"HS3ST6"	"heparan sulfate (glucosamine) 3-O-sulfotransferase 6"	"16"	"p13.3"	"unknown"	"NC_000016.9"	"UD_136016818065"	""	"http://www.LOVD.nl/HS3ST6"	""	"1"	"14178"	"64711"	"619210"	"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/HS3ST6_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2025-03-13 09:27:06"	"00006"	"2025-11-19 14:03:13"


## 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}}"
"00009630"	"HS3ST6"	"heparan sulfate (glucosamine) 3-O-sulfotransferase 6"	"001"	"NM_001009606.2"	""	"NP_001009606.2"	""	""	""	"1"	"1063"	"936"	"1968231"	"1961464"	""	"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}}"
"06944"	"HAE"	"angioedema, hereditary"	""	""	""	""	""	"00006"	"2022-07-07 09:18:20"	""	""
"07156"	"HAE8"	"angioedema, hereditary, type 8"	"AD"	"619367"	""	""	""	"00006"	"2025-03-13 09:26:45"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"HS3ST6"	"06944"
"HS3ST6"	"07156"


## 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}}"
"00384653"	""	""	""	"4"	""	"03256"	"{DOI:Bork 2021:10.1016/j.jaci.2021.01.011}"	"Four female patients are affected, with a high number of lifetime attacks"	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00469720"	""	""	""	"1"	""	"03256"	"{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}"	""	"M"	"no"	"China"	""	"0"	""	""	""	"Pat5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00384653"	"07156"
"00469720"	"07156"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 06944, 07156
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000278437"	"02963"	"00384653"	"03256"	"Familial"	""	"Female proband fulfills the following medical criteria for diagnosing HAEnCIINH, with recurrent swellings of the skin, abdominal pain attacks, tongue swellings or laryngeal attacks; absence of urticaria; family history positive for angioedema, and normal C1-INH function and concentration in plasma"	""	""	""	""	""	""	""	""
"0000354872"	"07156"	"00469720"	"03256"	"Familial"	""	"HAE-nC1INH with unilateral lower extremity erysipelas, which resolved following antibiotic therapy. However, persistent, non-pitting edema developed in the same limb and subsequently progressed to the contralateral side.\r\nSymptoms persisted without improvement after administration of Icatibant and six biweekly injections of lanadelumab."	""	"31y"	""	""	""	""	""	""


## 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}}"
"0000385880"	"00384653"	"1"	"03256"	"03256"	"2021-10-05 11:01:25"	""	""	"SEQ-NG"	"DNA"	"bl"	""
"0000471388"	"00469720"	"1"	"03256"	"03256"	"2025-11-19 09:44:58"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000385880"	"HS3ST6"
"0000471388"	"HS3ST6"


## 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 = 12
"{{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}}"
"0000557045"	"0"	"30"	"16"	"1961803"	"1961803"	"subst"	"4.47402E-5"	"01943"	"HS3ST6_000001"	"g.1961803C>T"	""	""	""	"HS3ST6(NM_001009606.3):c.817G>A (p.V273I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1911802C>T"	""	"likely benign"	""
"0000813043"	"0"	"70"	"16"	"1962097"	"1962097"	"subst"	"0"	"03256"	"HS3ST6_000002"	"g.1962097T>A"	"0.000007 (gnomAD)"	"{DOI:Bork 2021:10.1016/j.jaci.2021.01.011} {OMIM 619210:619367} {DOI:Pechnikova 2022:10.15789/1563-0625-ABA-2577}"	""	"p.(Thr144Ser)"	"Thr144 position is highly conserved among orthologous genes and paralogous genes\r\nIn silico analysis of variant prognostic and clinical significance for the development of HAE-HS3ST6 developed by Pechnikova 2022.\r\nAscribed by OMIM to angioedema, hereditary 8, HAE8"	"Germline"	"yes"	"rs746467957"	"0"	""	""	"g.1912189T>A"	"{CV-SCV:001712270.2}"	"pathogenic"	"ACMG"
"0000892598"	"0"	"30"	"16"	"1962141"	"1962141"	"subst"	"0.00104427"	"02325"	"HS3ST6_000003"	"g.1962141G>A"	""	""	""	"HS3ST6(NM_001009606.4):c.479C>T (p.T160M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930519"	"0"	"30"	"16"	"1962002"	"1962002"	"subst"	"0"	"02326"	"HS3ST6_000004"	"g.1962002G>C"	""	""	""	"HS3ST6(NM_001009606.4):c.618C>G (p.A206=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930520"	"0"	"30"	"16"	"1962004"	"1962004"	"subst"	"0.000707374"	"02326"	"HS3ST6_000005"	"g.1962004C>A"	""	""	""	"HS3ST6(NM_001009606.4):c.616G>T (p.A206S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950533"	"0"	"30"	"16"	"1967986"	"1967986"	"dup"	"0"	"02325"	"HS3ST6_000006"	"g.1967986dup"	""	""	""	"HS3ST6(NM_001009606.4):c.342dup (p.(Asp115Argfs*8)), HS3ST6(NM_001009606.4):c.342dupC (p.D115Rfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981674"	"0"	"50"	"16"	"1968200"	"1968200"	"subst"	"0"	"01804"	"HS3ST6_000007"	"g.1968200T>C"	""	""	""	"HS3ST6(NM_001009606.4):c.125A>G (p.(Tyr42Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040869"	"0"	"50"	"16"	"1961881"	"1961881"	"subst"	"4.16323E-6"	"02325"	"HS3ST6_000008"	"g.1961881C>T"	""	""	""	"HS3ST6(NM_001009606.4):c.739G>A (p.V247I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040873"	"0"	"30"	"16"	"1962215"	"1962215"	"subst"	"0.00732572"	"01804"	"HS3ST6_000009"	"g.1962215C>T"	""	""	""	"HS3ST6(NM_001009606.4):c.414-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040876"	"0"	"30"	"16"	"1967986"	"1967986"	"dup"	"0"	"01804"	"HS3ST6_000006"	"g.1967986dup"	""	""	""	"HS3ST6(NM_001009606.4):c.342dup (p.(Asp115Argfs*8)), HS3ST6(NM_001009606.4):c.342dupC (p.D115Rfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040877"	"0"	"30"	"16"	"1968001"	"1968001"	"subst"	"0.000145709"	"01804"	"HS3ST6_000010"	"g.1968001C>A"	""	""	""	"HS3ST6(NM_001009606.4):c.324G>T (p.(Glu108Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001059530"	"21"	"50"	"16"	"1962123"	"1962123"	"subst"	"0.000173055"	"03256"	"HS3ST6_000011"	"g.1962123C>T"	""	"{DOI:Gao 2025:10.1007/s10875-025-01912-z}"	""	"NM_001009606.4:c.497G>A"	"Asymptomatic patient’s mother carrying the variant."	"Germline"	""	"rs202049960"	"0"	""	""	"g.1912122C>T"	"{CV-SCV:003959161.2}"	"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 HS3ST6
## Count = 12
"{{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}}"
"0000557045"	"00009630"	"30"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Val242Ile)"	""
"0000813043"	"00009630"	"70"	"430"	"0"	"430"	"0"	"c.430A>T"	"r.(?)"	"p.(Lys144*)"	"2"
"0000892598"	"00009630"	"30"	"386"	"0"	"386"	"0"	"c.386C>T"	"r.(?)"	"p.(Thr129Met)"	""
"0000930519"	"00009630"	"30"	"525"	"0"	"525"	"0"	"c.525C>G"	"r.(?)"	"p.(=)"	""
"0000930520"	"00009630"	"30"	"523"	"0"	"523"	"0"	"c.523G>T"	"r.(?)"	"p.(Ala175Ser)"	""
"0000950533"	"00009630"	"30"	"249"	"0"	"249"	"0"	"c.249dup"	"r.(?)"	"p.(Asp84Argfs*8)"	""
"0000981674"	"00009630"	"50"	"32"	"0"	"32"	"0"	"c.32A>G"	"r.(?)"	"p.(Tyr11Cys)"	""
"0001040869"	"00009630"	"50"	"646"	"0"	"646"	"0"	"c.646G>A"	"r.(?)"	"p.(Val216Ile)"	""
"0001040873"	"00009630"	"30"	"321"	"-9"	"321"	"-9"	"c.321-9G>A"	"r.(=)"	"p.(=)"	""
"0001040876"	"00009630"	"30"	"249"	"0"	"249"	"0"	"c.249dup"	"r.(?)"	"p.(Asp84Argfs*8)"	""
"0001040877"	"00009630"	"30"	"231"	"0"	"231"	"0"	"c.231G>T"	"r.(?)"	"p.(Glu77Asp)"	""
"0001059530"	"00009630"	"50"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.(Arg135His)"	"2"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000385880"	"0000813043"
"0000471388"	"0001059530"