### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATP6V1E1)
# 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}}"
"ATP6V1E1"	"ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1"	"22"	"q11.2"	"unknown"	"NG_009214.2"	"UD_132078947345"	""	"https://www.LOVD.nl/ATP6V1E1"	""	"1"	"857"	"529"	"108746"	"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/ATP6V1E1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-08-08 20:52:56"	"00006"	"2025-06-07 12:17:28"


## 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}}"
"00003106"	"ATP6V1E1"	"transcript variant 1"	"003"	"NM_001696.3"	""	"NP_001687.1"	""	""	""	"-187"	"1219"	"681"	"18111588"	"18074902"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"05807"	"ARCL2C"	"cutis laxa, autosomal recessive, type IIC (ARCL2C)"	"AR"	"617402"	""	""	""	"00006"	"2020-08-08 20:56:19"	""	""
"05810"	"cutis laxa"	"cutis laxa"	""	""	""	""	""	"00006"	"2020-08-08 21:29:17"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ATP6V1E1"	"05807"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00307277"	""	""	""	"2"	""	"00006"	"{PMID:Van Damme 2017:28065471}"	"2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam1PatII1"
"00307278"	""	""	"00307277"	"1"	""	"00006"	"{PMID:Van Damme 2017:28065471}"	"fetus"	""	"yes"	"Iran"	""	"0"	""	""	""	"Fam1PatII2"
"00307279"	""	""	""	"2"	""	"00006"	"{PMID:Van Damme 2017:28065471}"	"2-generation family, affected sister/brother unaffected heterozygous carrier parents"	"F"	"yes"	"Kuwait"	""	"0"	""	""	""	"Fam2PatII1"
"00307280"	""	""	"00307279"	"1"	""	"00006"	"{PMID:Van Damme 2017:28065471}"	"brother"	"M"	"yes"	"Kuwait"	""	"0"	""	""	""	"Fam2PatII2"
"00465818"	""	""	""	"2"	""	"00006"	"{PMID:Alazami 2016:27023906}"	"family, 2 affected"	""	""	"Saudi Arabia"	""	"0"	""	""	""	"Fam5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00307277"	"05810"
"00307278"	"05810"
"00307279"	"05810"
"00307280"	"05810"
"00465818"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05807, 05810
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000233078"	"05810"	"00307277"	"00006"	"Familial, autosomal recessive"	"5m"	"generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; hip dysplasia; contractures; no kyphoscoliosis; no marfanoid habitus; hypotonia; cardiac abnormalities; aortic dilation; no urogenital abnormalities; ICAM-1 reduction; Golgi-trafficking defects; giant autolysosomes; extracellular matrix defects"	""	""	""	""	""	""	""	""	""	"cutis laxa"	""
"0000233079"	"05810"	"00307278"	"00006"	"Familial, autosomal recessive"	"<0d"	"no generalized cutis laxa; no large skin folds; no improving cutis laxa with age; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; no contractures; no kyphoscoliosis; no marfanoid habitus; cardiac abnormalities; no aortic dilation; no pneumothorax; no urogenital abnormalities"	""	""	""	""	""	""	""	""	""	"cutis laxa"	""
"0000233080"	"05810"	"00307279"	"00006"	"Familial, autosomal recessive"	"10y"	"generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; hip dysplasia; no contractures; kyphoscoliosis; marfanoid habitus; hypotonia; cardiac abnormalities; no aortic dilation; pneumothorax; no MRI abnormalities; no urogenital abnormalities; transferrin isoelectric focusing type II abnormalities; mass spec abnormalities"	""	""	""	""	""	""	""	""	""	"cutis laxa"	""
"0000233081"	"05810"	"00307280"	"00006"	"Familial, autosomal recessive"	"9y"	"generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; no hip dysplasia; no contractures; kyphoscoliosis; marfanoid habitus; hypotonia; no cardiac abnormalities; no aortic dilation; pneumothorax; inguinal herniation, cryptorchidy; transferrin isoelectric focusing type II abnormalities; mass spec abnormalities"	""	""	""	""	""	""	""	""	""	"cutis laxa"	""
"0000351265"	"00198"	"00465818"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., Cutis laxa, dysmorphic features (short forehead, shallow furrowing at forehead midline, blepharophimosis, strabismus, entropion, infraorbital puffiness, maxillary hypoplasia, crowding of the teeth, prominent jaw, saggy cheeks, an abnormal bulge of the upper third of the nasal spine, saddle nose, anteverted nares (almost tented tip of the nose), long philtrum, midline cleft palate, microstomia), nephrocalcinosis, congenital heart defects"	""	""	""	""	""	""	""	""	"ARCL2C"	"joint laxity"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000308419"	"00307277"	"1"	"00006"	"00006"	"2020-08-08 21:40:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308420"	"00307278"	"1"	"00006"	"00006"	"2020-08-08 21:40:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308421"	"00307279"	"1"	"00006"	"00006"	"2020-08-08 21:40:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308422"	"00307280"	"1"	"00006"	"00006"	"2020-08-08 21:40:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000467469"	"00465818"	"1"	"00006"	"00006"	"2025-06-07 12:17:17"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000308419"	"ATP6V1E1"
"0000308420"	"ATP6V1E1"
"0000308421"	"ATP6V1E1"
"0000308422"	"ATP6V1E1"


## 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}}"
"0000342408"	"0"	"50"	"22"	"18072368"	"18072368"	"subst"	"4.06085E-6"	"02327"	"SLC25A18_000001"	"g.18072368G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.17589602G>A"	""	"VUS"	""
"0000682808"	"3"	"90"	"22"	"18082845"	"18082845"	"subst"	"0"	"00006"	"ATP6V1E1_000002"	"g.18082845A>G"	""	"{PMID:Van Damme 2017:28065471}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17600079A>G"	""	"pathogenic (recessive)"	""
"0000682809"	"3"	"90"	"22"	"18082845"	"18082845"	"subst"	"0"	"00006"	"ATP6V1E1_000002"	"g.18082845A>G"	""	"{PMID:Van Damme 2017:28065471}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17600079A>G"	""	"pathogenic (recessive)"	""
"0000682810"	"3"	"90"	"22"	"18075487"	"18075487"	"subst"	"0"	"00006"	"ATP6V1E1_000003"	"g.18075487G>A"	""	"{PMID:Van Damme 2017:28065471}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17592721G>A"	""	"pathogenic (recessive)"	""
"0000682811"	"3"	"90"	"22"	"18075487"	"18075487"	"subst"	"0"	"00006"	"ATP6V1E1_000003"	"g.18075487G>A"	""	"{PMID:Van Damme 2017:28065471}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17592721G>A"	""	"pathogenic (recessive)"	""
"0001045281"	"3"	"90"	"22"	"18075487"	"18075487"	"subst"	"0"	"00006"	"ATP6V1E1_000003"	"g.18075487G>A"	""	"{PMID:Alazami 2016:27023906}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.17592721G>A"	""	"pathogenic (recessive)"	""


## 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 ATP6V1E1
## 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}}"
"0000342408"	"00003106"	"50"	"3753"	"0"	"3753"	"0"	"c.*3072C>T"	"r.(=)"	"p.(=)"	""
"0000682808"	"00003106"	"90"	"383"	"0"	"383"	"0"	"c.383T>C"	"r.(?)"	"p.(Leu128Pro)"	""
"0000682809"	"00003106"	"90"	"383"	"0"	"383"	"0"	"c.383T>C"	"r.(?)"	"p.(Leu128Pro)"	""
"0000682810"	"00003106"	"90"	"634"	"0"	"634"	"0"	"c.634C>T"	"r.(?)"	"p.(Arg212Trp)"	""
"0000682811"	"00003106"	"90"	"634"	"0"	"634"	"0"	"c.634C>T"	"r.(?)"	"p.(Arg212Trp)"	""
"0001045281"	"00003106"	"90"	"634"	"0"	"634"	"0"	"c.634C>T"	"r.(?)"	"p.(Arg212Trp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000308419"	"0000682808"
"0000308420"	"0000682809"
"0000308421"	"0000682810"
"0000308422"	"0000682811"
"0000467469"	"0001045281"