### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = VAX2)
# 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}}"
"VAX2"	"ventral anterior homeobox 2"	"2"	"p13.3"	"unknown"	"NG_030009.1"	"UD_132368939233"	""	"https://www.LOVD.nl/VAX2"	""	"1"	"12661"	"25806"	"604295"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/VAX2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-09-20 00:00:00"	"00006"	"2017-05-15 16:33:49"	"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}}"
"00022569"	"VAX2"	"ventral anterior homeobox 2"	"001"	"NM_012476.2"	""	"NP_036608.1"	""	""	""	"-32"	"1115"	"873"	"71127720"	"71160576"	""	"0000-00-00 00:00:00"	""	""


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


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


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


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


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


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


## 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 = 16
"{{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}}"
"0000261214"	"0"	"10"	"2"	"71163111"	"71163111"	"subst"	"0.117722"	"02326"	"ATP6V1B1_000001"	"g.71163111T>C"	""	""	""	"ATP6V1B1(NM_001692.4):c.27T>C (p.P9=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70935981T>C"	""	"benign"	""
"0000319502"	"0"	"50"	"2"	"71148395"	"71148395"	"subst"	"0.00421226"	"01943"	"VAX2_000002"	"g.71148395C>A"	""	""	""	"VAX2(NM_012476.2):c.415C>A (p.L139M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70921265C>A"	""	"VUS"	""
"0000327066"	"0"	"50"	"2"	"71148291"	"71148291"	"subst"	"0.000204025"	"01804"	"VAX2_000001"	"g.71148291G>A"	""	""	""	"VAX2(NM_012476.2):c.311G>A (p.(Arg104Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70921161G>A"	""	"VUS"	""
"0000327067"	"0"	"50"	"2"	"71159963"	"71159963"	"subst"	"6.95069E-5"	"01804"	"VAX2_000003"	"g.71159963C>G"	""	""	""	"VAX2(NM_012476.2):c.502C>G (p.(Arg168Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70932833C>G"	""	"VUS"	""
"0000338647"	"0"	"10"	"2"	"71163051"	"71163051"	"subst"	"0.117568"	"02327"	"ATP6V1B1_000013"	"g.71163051C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70935921C>T"	""	"benign"	""
"0000338648"	"0"	"10"	"2"	"71163220"	"71163220"	"subst"	"0.0282889"	"02327"	"ATP6V1B1_000017"	"g.71163220C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70936090C>T"	""	"benign"	""
"0000340399"	"0"	"10"	"2"	"71162996"	"71162996"	"subst"	"0"	"02327"	"ATP6V1B1_000027"	"g.71162996A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70935866A>G"	""	"benign"	""
"0000340940"	"0"	"10"	"2"	"71163111"	"71163111"	"subst"	"0.117722"	"02327"	"ATP6V1B1_000001"	"g.71163111T>C"	""	""	""	"ATP6V1B1(NM_001692.4):c.27T>C (p.P9=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70935981T>C"	""	"benign"	""
"0000344722"	"0"	"90"	"2"	"71163163"	"71163163"	"subst"	"0"	"02327"	"ATP6V1B1_000015"	"g.71163163C>T"	""	""	""	"ATP6V1B1(NM_001692.4):c.79C>T (p.Q27*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70936033C>T"	""	"pathogenic"	""
"0000347768"	"0"	"10"	"2"	"71163086"	"71163086"	"subst"	"0.400777"	"02327"	"ATP6V1B1_000014"	"g.71163086T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70935956T>C"	""	"benign"	""
"0000349437"	"0"	"10"	"2"	"71163173"	"71163173"	"subst"	"0.184959"	"02327"	"ATP6V1B1_000016"	"g.71163173C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70936043C>T"	""	"benign"	""
"0000608069"	"0"	"90"	"2"	"71163196"	"71163196"	"dup"	"0"	"01943"	"ATP6V1B1_000033"	"g.71163196dup"	""	""	""	"ATP6V1B1(NM_001692.4):c.112dupC (p.R38Pfs*45)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.70936066dup"	""	"pathogenic"	""
"0000718938"	"0"	"90"	"2"	"71163111"	"71163111"	"del"	"1.62715E-5"	"01943"	"ATP6V1B1_000068"	"g.71163111del"	""	""	""	"ATP6V1B1(NM_001692.4):c.27delT (p.L12Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000858640"	"0"	"30"	"2"	"71163161"	"71163161"	"subst"	"0.00034944"	"01943"	"ATP6V1B1_000072"	"g.71163161T>C"	""	""	""	"ATP6V1B1(NM_001692.4):c.77T>C (p.M26T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024670"	"0"	"90"	"2"	"71163163"	"71163163"	"subst"	"0"	"02326"	"ATP6V1B1_000015"	"g.71163163C>T"	""	""	""	"ATP6V1B1(NM_001692.4):c.79C>T (p.Q27*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001033448"	"0"	"50"	"2"	"71163196"	"71163196"	"subst"	"0.000199117"	"01804"	"ATP6V1B1_000075"	"g.71163196C>T"	""	""	""	"ATP6V1B1(NM_001692.4):c.112C>T (p.(Arg38Cys))"	"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 VAX2
## Count = 16
"{{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}}"
"0000261214"	"00022569"	"10"	"3650"	"0"	"3650"	"0"	"c.*2777T>C"	"r.(=)"	"p.(=)"	""
"0000319502"	"00022569"	"50"	"415"	"0"	"415"	"0"	"c.415C>A"	"r.(?)"	"p.(Leu139Met)"	""
"0000327066"	"00022569"	"50"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0000327067"	"00022569"	"50"	"502"	"0"	"502"	"0"	"c.502C>G"	"r.(?)"	"p.(Arg168Gly)"	""
"0000338647"	"00022569"	"10"	"3590"	"0"	"3590"	"0"	"c.*2717C>T"	"r.(=)"	"p.(=)"	""
"0000338648"	"00022569"	"10"	"3759"	"0"	"3759"	"0"	"c.*2886C>T"	"r.(=)"	"p.(=)"	""
"0000340399"	"00022569"	"10"	"3535"	"0"	"3535"	"0"	"c.*2662A>G"	"r.(=)"	"p.(=)"	""
"0000340940"	"00022569"	"10"	"3650"	"0"	"3650"	"0"	"c.*2777T>C"	"r.(=)"	"p.(=)"	""
"0000344722"	"00022569"	"90"	"3702"	"0"	"3702"	"0"	"c.*2829C>T"	"r.(=)"	"p.(=)"	""
"0000347768"	"00022569"	"10"	"3625"	"0"	"3625"	"0"	"c.*2752T>C"	"r.(=)"	"p.(=)"	""
"0000349437"	"00022569"	"10"	"3712"	"0"	"3712"	"0"	"c.*2839C>T"	"r.(=)"	"p.(=)"	""
"0000608069"	"00022569"	"90"	"3735"	"0"	"3735"	"0"	"c.*2862dup"	"r.(?)"	"p.(=)"	""
"0000718938"	"00022569"	"90"	"3650"	"0"	"3650"	"0"	"c.*2777del"	"r.(?)"	"p.(=)"	""
"0000858640"	"00022569"	"30"	"3700"	"0"	"3700"	"0"	"c.*2827T>C"	"r.(=)"	"p.(=)"	""
"0001024670"	"00022569"	"90"	"3702"	"0"	"3702"	"0"	"c.*2829C>T"	"r.(=)"	"p.(=)"	""
"0001033448"	"00022569"	"50"	"3735"	"0"	"3735"	"0"	"c.*2862C>T"	"r.(=)"	"p.(=)"	""


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