### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = S1PR2)
# 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}}"
"S1PR2"	"sphingosine-1-phosphate receptor 2"	"19"	"q13"	"unknown"	"NG_046802.1"	"UD_132457030288"	""	"https://www.LOVD.nl/S1PR2"	""	"1"	"3169"	"9294"	"605111"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/S1PR2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-04-11 10:48:55"	"00000"	"2022-05-09 16:01:56"


## 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}}"
"00018337"	"S1PR2"	"sphingosine-1-phosphate receptor 2"	"001"	"NM_004230.3"	""	"NP_004221.3"	""	""	""	"-111"	"3473"	"1062"	"10341948"	"10332109"	""	"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"
"05400"	"DFNB"	"deafness, autosomal recessive (DFNB)"	""	""	""	"autosomal recessive"	""	"00006"	"2018-02-24 17:20:21"	""	""
"05410"	"DFNB68"	"deafness, autosomal recessive, type 68 (DFNB-68)"	"AR"	"610419"	""	"autosomal recessive"	""	"00006"	"2018-03-23 10:53:33"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"S1PR2"	"05400"
"S1PR2"	"05410"


## 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}}"
"00155302"	""	""	""	"4"	""	"02404"	"{PMID:Hofrichter 2018:29776397}"	"4-generation family, 4 affected (3F, M)"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"E30PatV4"
"00155311"	""	""	""	"7"	""	"00006"	"{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}"	"5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"26805784-FamDEM4154"
"00155312"	""	""	""	"5"	""	"00006"	"{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}"	"4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"26805784-FamPKDF1400"
"00292013"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292014"	""	""	""	"30"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00155302"	"05400"
"00155311"	"05400"
"00155312"	"05400"
"00292013"	"00198"
"00292014"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05400, 05410
## Count = 3
"{{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}}"
"0000127810"	"05400"	"00155302"	"02404"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"DFNB-68"	"deafness, autosomal recessive (DFNB)"	""
"0000127811"	"05400"	"00155311"	"00006"	"Familial, autosomal recessive"	""	"congenital profound hearing impairment, limb malformations, no other abnormalities"	""	""	""	""	""	""	""	""	"DFNB-68"	"deafness, autosomal recessive (DFNB)"	""
"0000127812"	"05400"	"00155312"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"DFNB-68"	"deafness, autosomal recessive (DFNB)"	""


## 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}}"
"0000156166"	"00155302"	"1"	"02404"	"02404"	"2018-03-22 11:23:06"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000156175"	"00155311"	"1"	"00006"	"00006"	"2018-03-23 11:11:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000156176"	"00155312"	"1"	"00006"	"00006"	"2018-03-23 11:28:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000293181"	"00292013"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293182"	"00292014"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000156166"	"S1PR2"
"0000156175"	"S1PR2"
"0000156176"	"S1PR2"


## 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 = 10
"{{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}}"
"0000358070"	"3"	"70"	"19"	"10335259"	"10335259"	"subst"	"0"	"02404"	"S1PR2_000001"	"g.10335259C>T"	""	"{PMID:Hofrichter 2018:29776397}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.10224583C>T"	""	"likely pathogenic (recessive)"	""
"0000358092"	"3"	"90"	"19"	"10335259"	"10335259"	"subst"	"0"	"00006"	"S1PR2_000002"	"g.10335259C>G"	""	"{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}, {OMIM605111:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.10224583C>G"	""	"pathogenic (recessive)"	""
"0000358098"	"3"	"90"	"19"	"10335163"	"10335163"	"subst"	"0"	"00006"	"S1PR2_000003"	"g.10335163T>C"	""	"{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}, {OMIM605111:0002}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.10224487T>C"	""	"pathogenic (recessive)"	""
"0000565552"	"0"	"50"	"19"	"10334621"	"10334621"	"subst"	"8.52871E-6"	"01943"	"S1PR2_000004"	"g.10334621G>C"	""	""	""	"S1PR2(NM_004230.4):c.961C>G (p.P321A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10223945G>C"	""	"VUS"	""
"0000565553"	"0"	"50"	"19"	"10334905"	"10334905"	"subst"	"4.49273E-5"	"01943"	"S1PR2_000005"	"g.10334905G>A"	""	""	""	"S1PR2(NM_004230.4):c.677C>T (p.P226L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10224229G>A"	""	"VUS"	""
"0000565554"	"0"	"50"	"19"	"10335550"	"10335550"	"subst"	"0"	"01943"	"S1PR2_000006"	"g.10335550G>T"	""	""	""	"S1PR2(NM_004230.4):c.32C>A (p.P11H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10224874G>T"	""	"VUS"	""
"0000649870"	"1"	"30"	"19"	"10334725"	"10334725"	"subst"	"0.00730621"	"03575"	"S1PR2_000007"	"g.10334725A>G"	"8/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 heterozygous, no homozygous; {DB:CLININrs117064827}"	"Germline"	""	"rs117064827"	"0"	""	""	"g.10224049A>G"	""	"likely benign"	""
"0000649871"	"1"	"30"	"19"	"10335552"	"10335552"	"subst"	"0.00971152"	"03575"	"S1PR2_000008"	"g.10335552G>T"	"30/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"30 heterozygous, no homozygous; {DB:CLININrs56357614}"	"Germline"	""	"rs56357614"	"0"	""	""	"g.10224876G>T"	""	"likely benign"	""
"0000865769"	"0"	"50"	"19"	"10334590"	"10334590"	"subst"	"8.4974E-6"	"01943"	"S1PR2_000009"	"g.10334590G>C"	""	""	""	"S1PR2(NM_004230.4):c.992C>G (p.S331C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865770"	"0"	"30"	"19"	"10334838"	"10334838"	"subst"	"0.000566223"	"01943"	"S1PR2_000010"	"g.10334838G>T"	""	""	""	"S1PR2(NM_004230.4):c.744C>A (p.P248=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 S1PR2
## Count = 10
"{{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}}"
"0000358070"	"00018337"	"70"	"323"	"0"	"323"	"0"	"c.323G>A"	"r.(?)"	"p.(Arg108Gln)"	"2"
"0000358092"	"00018337"	"90"	"323"	"0"	"323"	"0"	"c.323G>C"	"r.(?)"	"p.(Arg108Pro)"	"2"
"0000358098"	"00018337"	"90"	"419"	"0"	"419"	"0"	"c.419A>G"	"r.(?)"	"p.(Tyr140Cys)"	"2"
"0000565552"	"00018337"	"50"	"961"	"0"	"961"	"0"	"c.961C>G"	"r.(?)"	"p.(Pro321Ala)"	""
"0000565553"	"00018337"	"50"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Pro226Leu)"	""
"0000565554"	"00018337"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""
"0000649870"	"00018337"	"30"	"857"	"0"	"857"	"0"	"c.857T>C"	"r.(?)"	"p.(Val286Ala)"	""
"0000649871"	"00018337"	"30"	"30"	"0"	"30"	"0"	"c.30C>A"	"r.(?)"	"p.(Asn10Lys)"	""
"0000865769"	"00018337"	"50"	"992"	"0"	"992"	"0"	"c.992C>G"	"r.(?)"	"p.(Ser331Cys)"	""
"0000865770"	"00018337"	"30"	"744"	"0"	"744"	"0"	"c.744C>A"	"r.(?)"	"p.(Pro248=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000156166"	"0000358070"
"0000156175"	"0000358092"
"0000156176"	"0000358098"
"0000293181"	"0000649870"
"0000293182"	"0000649871"