### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ITPR2)
# 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}}"
"ITPR2"	"inositol 1,4,5-trisphosphate receptor, type 2"	"12"	"p11.23"	"unknown"	"NC_000012.11"	"UD_132319598188"	""	"http://www.LOVD.nl/ITPR2"	""	"1"	"6181"	"3709"	"600144"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/ITPR2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-17 21:47:03"	"00006"	"2025-09-05 13:21:22"


## 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}}"
"00010231"	"ITPR2"	"inositol 1,4,5-trisphosphate receptor, type 2"	"001"	"NM_002223.2"	""	"NP_002214.2"	""	""	""	"-417"	"12151"	"8106"	"26986131"	"26488285"	""	"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}}"
"00212"	"SCZD"	"schizophrenia (SCZD)"	"AD"	"181500"	""	""	""	"00006"	"2013-09-24 21:08:12"	"00006"	"2021-12-10 21:51:32"
"04159"	"-"	"anhidrosis"	""	""	""	""	""	"00006"	"2014-12-17 21:53:12"	""	""
"04531"	"ANHD"	"anhidrosis?, isolated, with normal sweat glands (ANHD)"	"AR"	"106190"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ITPR2"	"04159"
"ITPR2"	"04531"


## 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}}"
"00025863"	""	""	""	"5"	""	"00006"	"{PMID:Klar 2014:25329695}"	"7-generation family, 5 affecteds (2F, 3M), unaffected heterozygous relatives"	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00466457"	""	""	""	"1"	""	"00006"	"{PMID:Takata 2014:24853937}, {DOI:Takata 2014:10.1016/j.neuron.2014.04.043}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	"United States"	""	"0"	""	""	"African-American"	"Pat2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00025863"	"04159"
"00466457"	"00212"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00212, 04159, 04531
## Count = 1
"{{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}}"
"0000021973"	"04159"	"00025863"	"00006"	"Familial, autosomal recessive"	""	"anhidrosis (HPO_0000970), severe heat intolerance; normal body growth, normal teeth, hair, nails, and skin; serum/urine normal electrolyte levels; abnormal increases skin and ear canal temperature\r\nwhen heat exposed; normal morphology/number sweat glands (forearm)"	""	""	""	""	""	""	""	""	""


## 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}}"
"0000025865"	"00025863"	"1"	"00006"	"00006"	"2014-12-17 21:53:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468120"	"00466457"	"1"	"00006"	"00006"	"2025-09-05 13:18:07"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000025865"	"ITPR2"


## 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}}"
"0000048876"	"3"	"90"	"12"	"26553099"	"26553099"	"subst"	"0"	"00006"	"ITPR2_000001"	"g.26553099C>T"	""	"{PMID:Klar 2014:25329695}"	""	""	"autozygosity mapping, linked to 3.4 Mb 12p12-p11 region (LOD score 3.08) containing 31 genes; not in 200 control chromosomes Pakistan nor 200 Sweden"	"Germline"	"yes"	""	"0"	""	""	"g.26400166C>T"	""	"pathogenic"	""
"0000289835"	"0"	"50"	"12"	"26731686"	"26731686"	"subst"	"6.09984E-5"	"01943"	"ITPR2_000002"	"g.26731686T>G"	""	""	""	"ITPR2(NM_002223.3):c.4590A>C (p.K1530N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26578753T>G"	""	"VUS"	""
"0000289836"	"0"	"50"	"12"	"26869177"	"26869177"	"subst"	"0"	"01943"	"ITPR2_000003"	"g.26869177T>G"	""	""	""	"ITPR2(NM_002223.3):c.526-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26716244T>G"	""	"VUS"	""
"0000547677"	"0"	"30"	"12"	"26709168"	"26709168"	"subst"	"0.00418189"	"01943"	"ITPR2_000004"	"g.26709168C>T"	""	""	""	"ITPR2(NM_002223.3):c.4962G>A (p.S1654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26556235C>T"	""	"likely benign"	""
"0000547678"	"0"	"50"	"12"	"26752257"	"26752257"	"subst"	"0.000182827"	"01943"	"ITPR2_000005"	"g.26752257G>A"	""	""	""	"ITPR2(NM_002223.3):c.3823C>T (p.R1275W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26599324G>A"	""	"VUS"	""
"0000547679"	"0"	"50"	"12"	"26755382"	"26755382"	"subst"	"0.000146361"	"01943"	"ITPR2_000006"	"g.26755382C>T"	""	""	""	"ITPR2(NM_002223.3):c.3599G>A (p.R1200Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26602449C>T"	""	"VUS"	""
"0000547685"	"0"	"30"	"12"	"26777287"	"26777287"	"subst"	"0.000656109"	"01943"	"ITPR2_000007"	"g.26777287T>C"	""	""	""	"ITPR2(NM_002223.3):c.3067A>G (p.I1023V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26624354T>C"	""	"likely benign"	""
"0000547686"	"0"	"50"	"12"	"26780964"	"26780964"	"subst"	"0"	"01943"	"ITPR2_000008"	"g.26780964A>C"	""	""	""	"ITPR2(NM_002223.3):c.3064+2T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26628031A>C"	""	"VUS"	""
"0000547687"	"0"	"50"	"12"	"26784902"	"26784902"	"subst"	"5.29238E-5"	"01943"	"ITPR2_000009"	"g.26784902G>A"	""	""	""	"ITPR2(NM_002223.3):c.2831C>T (p.P944L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26631969G>A"	""	"VUS"	""
"0000547688"	"0"	"50"	"12"	"26807016"	"26807016"	"subst"	"0"	"01943"	"ITPR2_000010"	"g.26807016C>A"	""	""	""	"ITPR2(NM_002223.3):c.2633G>T (p.S878I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26654083C>A"	""	"VUS"	""
"0000691318"	"0"	"50"	"12"	"26634090"	"26634090"	"subst"	"8.12592E-6"	"02325"	"ITPR2_000011"	"g.26634090G>A"	""	""	""	"ITPR2(NM_002223.4):c.6097C>T (p.R2033*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862950"	"0"	"30"	"12"	"26493117"	"26493117"	"subst"	"0.00125889"	"01943"	"ITPR2_000012"	"g.26493117C>T"	""	""	""	"ITPR2(NM_002223.3):c.8002G>A (p.A2668T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862952"	"0"	"50"	"12"	"26755617"	"26755617"	"subst"	"0.000836086"	"01943"	"ITPR2_000013"	"g.26755617A>C"	""	""	""	"ITPR2(NM_002223.3):c.3485T>G (p.V1162G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862953"	"0"	"50"	"12"	"26774175"	"26774175"	"subst"	"2.0331E-5"	"02325"	"ITPR2_000014"	"g.26774175C>G"	""	""	""	"ITPR2(NM_002223.4):c.3343G>C (p.D1115H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001047668"	"0"	"90"	"12"	"26816636"	"26816638"	"delins"	"0"	"00006"	"ITPR2_000015"	"g.26816636_26816638delinsAGGTCAGTGTC"	""	"{PMID:Takata 2014:24853937}, {DOI:Takata 2014:10.1016/j.neuron.2014.04.043}"	""	"c.1693_1695del3ins11 (CTG/AGGTCAGTGTC)"	""	"De novo"	""	""	"0"	""	""	"g.26663703_26663705delinsAGGTCAGTGTC"	""	"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 ITPR2
## 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}}"
"0000048876"	"00010231"	"90"	"7492"	"0"	"7492"	"0"	"c.7492G>A"	"r.(?)"	"p.(Gly2498Ser)"	"53"
"0000289835"	"00010231"	"50"	"4590"	"0"	"4590"	"0"	"c.4590A>C"	"r.(?)"	"p.(Lys1530Asn)"	""
"0000289836"	"00010231"	"50"	"526"	"-2"	"526"	"-2"	"c.526-2A>C"	"r.spl?"	"p.?"	""
"0000547677"	"00010231"	"30"	"4962"	"0"	"4962"	"0"	"c.4962G>A"	"r.(?)"	"p.(Ser1654=)"	""
"0000547678"	"00010231"	"50"	"3823"	"0"	"3823"	"0"	"c.3823C>T"	"r.(?)"	"p.(Arg1275Trp)"	""
"0000547679"	"00010231"	"50"	"3599"	"0"	"3599"	"0"	"c.3599G>A"	"r.(?)"	"p.(Arg1200Gln)"	""
"0000547685"	"00010231"	"30"	"3067"	"0"	"3067"	"0"	"c.3067A>G"	"r.(?)"	"p.(Ile1023Val)"	""
"0000547686"	"00010231"	"50"	"3064"	"2"	"3064"	"2"	"c.3064+2T>G"	"r.spl?"	"p.?"	""
"0000547687"	"00010231"	"50"	"2831"	"0"	"2831"	"0"	"c.2831C>T"	"r.(?)"	"p.(Pro944Leu)"	""
"0000547688"	"00010231"	"50"	"2633"	"0"	"2633"	"0"	"c.2633G>T"	"r.(?)"	"p.(Ser878Ile)"	""
"0000691318"	"00010231"	"50"	"6097"	"0"	"6097"	"0"	"c.6097C>T"	"r.(?)"	"p.(Arg2033Ter)"	""
"0000862950"	"00010231"	"30"	"8002"	"0"	"8002"	"0"	"c.8002G>A"	"r.(?)"	"p.(Ala2668Thr)"	""
"0000862952"	"00010231"	"50"	"3485"	"0"	"3485"	"0"	"c.3485T>G"	"r.(?)"	"p.(Val1162Gly)"	""
"0000862953"	"00010231"	"50"	"3343"	"0"	"3343"	"0"	"c.3343G>C"	"r.(?)"	"p.(Asp1115His)"	""
"0001047668"	"00010231"	"90"	"1693"	"0"	"1695"	"0"	"c.1693_1695delinsGACACTGACCT"	"r.(?)"	"p.(Gln565Aspfs*45)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000025865"	"0000048876"
"0000468120"	"0001047668"