### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ENTPD1)
# 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}}"
"ENTPD1"	"ectonucleoside triphosphate diphosphohydrolase 1"	"10"	"q23.1-q24.1"	"unknown"	"NC_000010.10"	"UD_132319361525"	""	"http://www.LOVD.nl/ENTPD1"	""	"1"	"3363"	"953"	"601752"	"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"	"http://databases.lovd.nl/shared/refseq/ENTPD1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-09-26 09:24:57"	"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}}"
"00007125"	"ENTPD1"	"transcript variant 1"	"004"	"NM_001776.5"	""	"NP_001767.3"	""	""	""	"-324"	"12416"	"1533"	"97515673"	"97637023"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04047"	"SPG64"	"paraplegia, spastic, type 64, autosomal recessive (SPG-64)"	"AR"	"615683"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ENTPD1"	"04047"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00081212"	""	""	""	"1"	""	"01771"	"{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}"	"4-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents, patient 1242-IV-2"	"M"	"yes"	""	""	"0"	""	""	""	""
"00081221"	""	""	""	"1"	""	"01771"	"{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}"	"patient 1242-IV-4"	"M"	"yes"	""	""	"0"	""	""	""	""
"00095150"	""	""	""	"2"	""	"00006"	"{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}"	"5-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents"	"F;M"	"yes"	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00081212"	"04047"
"00081221"	"04047"
"00095150"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04047
## 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}}"
"0000060710"	"04047"	"00081212"	"01771"	"Unknown"	"15y"	"Spasticity (HP:0001257)\r\nTalipes equinovarus (HP:0001762)\r\nHyperreflexia (HP:0001347)\r\nBabinski sign (HP:0003487)\r\nSkeletal muscle atrophy (HP:0003202)\r\nAggressive behavior (HP:0000718)\r\nDelayed puberty (HP:0000823)\r\nMicrocephaly (HP:0000252)\r\nIntellectual disability, borderline (HP:0006889)"	"03y06m"	""	"Gait disturbance (HP:0001288)"	""	""	""	""	""	""	""	""
"0000060799"	"04047"	"00081221"	"01771"	"Familial, autosomal recessive"	"10y"	"spasticity (HP:0001257), hyperreflexia (HP:0001347), Babinski sign (HP:0003487), intellectual disability, borderline (HP:0006889), delayed puberty (HP:0000823), microcephaly (HP:0000252)"	"04y"	"04y"	"Gait disturbance (HP:0001288)"	""	""	""	""	""	""	""	""
"0000073547"	"00198"	"00095150"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000081324"	"00081212"	"1"	"01771"	"01771"	"2016-09-22 13:08:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000081333"	"00081221"	"1"	"01771"	"01771"	"2016-09-25 12:52:09"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000095548"	"00095150"	"1"	"00006"	"00006"	"2017-01-06 15:46:39"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000081324"	"ENTPD1"
"0000081333"	"ENTPD1"
"0000095548"	"ENTPD1"


## 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 = 23
"{{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}}"
"0000130420"	"3"	"90"	"10"	"97605168"	"97605168"	"subst"	"0"	"01771"	"ENTPD1_000001"	"g.97605168G>A"	""	"{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}"	""	"G649A (G217R)"	""	"Germline"	"yes"	""	"0"	""	""	"g.95845411G>A"	""	"pathogenic"	""
"0000154081"	"3"	"90"	"10"	"97605168"	"97605168"	"subst"	"0"	"00006"	"ENTPD1_000001"	"g.97605168G>A"	""	"{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}"	""	"G649A (G217R)"	""	"Germline"	"yes"	""	"0"	""	""	"g.95845411G>A"	""	"pathogenic"	""
"0000154127"	"3"	"90"	"10"	"97604339"	"97604339"	"subst"	"0"	"00006"	"ENTPD1_000002"	"g.97604339G>T"	""	"{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}"	""	"G719T (E181X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.95844582G>T"	""	"pathogenic"	""
"0000267836"	"0"	"10"	"10"	"97602091"	"97602091"	"subst"	"0.538639"	"02325"	"ENTPD1_000003"	"g.97602091T>C"	""	""	""	"ENTPD1(NM_001776.6):c.263-10T>C, ENTPD1-AS1(NR_038444.1):n.533+5058A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95842334T>C"	""	"benign"	""
"0000321705"	"0"	"70"	"10"	"97620260"	"97620260"	"subst"	"0"	"01804"	"ENTPD1_000004"	"g.97620260T>A"	""	""	""	"ENTPD1(NM_001164178.1):c.1145T>A (p.(Leu382*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95860503T>A"	""	"likely pathogenic"	""
"0000541726"	"0"	"10"	"10"	"97471714"	"97471714"	"subst"	"2.05111E-5"	"01943"	"ENTPD1_000005"	"g.97471714A>G"	""	""	""	"ENTPD1(NM_001098175.1):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95711957A>G"	""	"benign"	""
"0000541727"	"0"	"10"	"10"	"97471716"	"97471716"	"subst"	"0"	"01943"	"ENTPD1_000006"	"g.97471716G>C"	""	""	""	"ENTPD1(NM_001098175.1):c.3G>C (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95711959G>C"	""	"benign"	""
"0000541728"	"0"	"30"	"10"	"97471736"	"97471736"	"subst"	"0"	"01804"	"ENTPD1_000007"	"g.97471736C>G"	""	""	""	"ENTPD1(NM_001098175.1):c.23C>G (p.(Thr8Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95711979C>G"	""	"likely benign"	""
"0000612831"	"0"	"30"	"10"	"97515523"	"97515523"	"subst"	"0.00334682"	"01943"	"C10orf131_000004"	"g.97515523G>A"	""	""	""	"ENTPD1(NM_001164178.1):c.52G>A (p.E18K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95755766G>A"	""	"likely benign"	""
"0000612832"	"0"	"30"	"10"	"97620237"	"97620237"	"subst"	"2.85019E-5"	"01943"	"C10orf131_000005"	"g.97620237T>C"	""	""	""	"ENTPD1(NM_001776.6):c.1086T>C (p.A362=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95860480T>C"	""	"likely benign"	""
"0000612833"	"0"	"30"	"10"	"97620290"	"97620290"	"subst"	"3.65574E-5"	"01943"	"C10orf131_000006"	"g.97620290A>G"	""	""	""	"ENTPD1(NM_001776.6):c.1139A>G (p.E380G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95860533A>G"	""	"likely benign"	""
"0000622468"	"0"	"30"	"10"	"97471746"	"97471746"	"subst"	"0.00253932"	"01943"	"ENTPD1_000008"	"g.97471746G>A"	""	""	""	"ENTPD1(NM_001098175.1):c.33G>A (p.Q11=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95711989G>A"	""	"likely benign"	""
"0000622469"	"0"	"50"	"10"	"97728491"	"97728491"	"subst"	"0"	"01943"	"C10orf131_000007"	"g.97728491A>C"	""	""	""	"CC2D2B(NM_001349008.2):c.1477A>C (p.K493Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95968734A>C"	""	"VUS"	""
"0000723048"	"0"	"30"	"10"	"97607409"	"97607409"	"subst"	"0.00114522"	"01943"	"C10orf131_000008"	"g.97607409C>T"	""	""	""	"ENTPD1(NM_001164179.1):c.897C>T (p.Y299=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723049"	"0"	"50"	"10"	"97626000"	"97626000"	"subst"	"4.06517E-5"	"01943"	"C10orf131_000009"	"g.97626000G>C"	""	""	""	"ENTPD1(NM_001164179.1):c.1270G>C (p.E424Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804659"	"0"	"50"	"10"	"97599449"	"97599449"	"subst"	"0"	"01943"	"C10orf131_000010"	"g.97599449A>G"	""	""	""	"ENTPD1(NM_001164179.1):c.146A>G (p.Y49C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804660"	"0"	"90"	"10"	"97604231"	"97604231"	"del"	"0"	"01943"	"C10orf131_000011"	"g.97604231del"	""	""	""	"ENTPD1(NM_001164179.1):c.414-2delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000862105"	"0"	"50"	"10"	"97620257"	"97620257"	"subst"	"8.12559E-6"	"02325"	"C10orf131_000012"	"g.97620257T>A"	""	""	""	"ENTPD1(NM_001776.6):c.1106T>A (p.F369Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925236"	"0"	"50"	"10"	"97602230"	"97602230"	"subst"	"0"	"02327"	"C10orf131_000013"	"g.97602230C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925237"	"0"	"50"	"10"	"97626023"	"97626023"	"del"	"4.06283E-6"	"02327"	"C10orf131_000014"	"g.97626023del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979262"	"0"	"70"	"10"	"97607324"	"97607324"	"del"	"0"	"02327"	"C10orf131_000015"	"g.97607324del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001022230"	"0"	"50"	"10"	"97599449"	"97599449"	"subst"	"0"	"04796"	"C10orf131_000010"	"g.97599449A>G"	""	""	""	""	"in vitro analysis 293T cells mini-gene exon trapping assay: no effect on RNA"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95839692A>G"	""	"VUS"	""
"0001038122"	"0"	"50"	"10"	"97636348"	"97636348"	"subst"	"0"	"01804"	"C10orf131_000016"	"g.97636348G>T"	""	""	""	"ENTPD1(NM_001320916.1):c.1425G>T (p.(Met475Ile))"	"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 ENTPD1
## Count = 23
"{{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}}"
"0000130420"	"00007125"	"90"	"628"	"0"	"628"	"0"	"c.628G>A"	"r.(?)"	"p.(Gly210Arg)"	"6"
"0000154081"	"00007125"	"90"	"628"	"0"	"628"	"0"	"c.628G>A"	"r.(?)"	"p.(Gly210Arg)"	"6"
"0000154127"	"00007125"	"90"	"520"	"0"	"520"	"0"	"c.520G>T"	"r.(?)"	"p.(Glu174*)"	"8"
"0000267836"	"00007125"	"10"	"263"	"-10"	"263"	"-10"	"c.263-10T>C"	"r.(=)"	"p.(=)"	""
"0000321705"	"00007125"	"70"	"1109"	"0"	"1109"	"0"	"c.1109T>A"	"r.(?)"	"p.(Leu370Ter)"	""
"0000541726"	"00007125"	"10"	"-44283"	"0"	"-44283"	"0"	"c.-44283A>G"	"r.(?)"	"p.(=)"	""
"0000541727"	"00007125"	"10"	"-44281"	"0"	"-44281"	"0"	"c.-44281G>C"	"r.(?)"	"p.(=)"	""
"0000541728"	"00007125"	"30"	"-44261"	"0"	"-44261"	"0"	"c.-44261C>G"	"r.(?)"	"p.(=)"	""
"0000612831"	"00007125"	"30"	"-474"	"0"	"-474"	"0"	"c.-474G>A"	"r.(?)"	"p.(=)"	""
"0000612832"	"00007125"	"30"	"1086"	"0"	"1086"	"0"	"c.1086T>C"	"r.(?)"	"p.(Ala362=)"	""
"0000612833"	"00007125"	"30"	"1139"	"0"	"1139"	"0"	"c.1139A>G"	"r.(?)"	"p.(Glu380Gly)"	""
"0000622468"	"00007125"	"30"	"-44251"	"0"	"-44251"	"0"	"c.-44251G>A"	"r.(?)"	"p.(=)"	""
"0000622469"	"00007125"	"50"	"103884"	"0"	"103884"	"0"	"c.*102351A>C"	"r.(=)"	"p.(=)"	""
"0000723048"	"00007125"	"30"	"1020"	"0"	"1020"	"0"	"c.1020C>T"	"r.(?)"	"p.(Tyr340=)"	""
"0000723049"	"00007125"	"50"	"1393"	"0"	"1393"	"0"	"c.1393G>C"	"r.(?)"	"p.(Glu465Gln)"	""
"0000804659"	"00007125"	"50"	"146"	"0"	"146"	"0"	"c.146A>G"	"r.(?)"	"p.(Tyr49Cys)"	""
"0000804660"	"00007125"	"90"	"414"	"-2"	"414"	"-2"	"c.414-2del"	"r.spl?"	"p.?"	""
"0000862105"	"00007125"	"50"	"1106"	"0"	"1106"	"0"	"c.1106T>A"	"r.(?)"	"p.(Phe369Tyr)"	""
"0000925236"	"00007125"	"50"	"392"	"0"	"392"	"0"	"c.392C>T"	"r.(?)"	"p.(Thr131Met)"	""
"0000925237"	"00007125"	"50"	"1416"	"0"	"1416"	"0"	"c.1416del"	"r.(?)"	"p.(Ser473Profs*22)"	""
"0000979262"	"00007125"	"70"	"935"	"0"	"935"	"0"	"c.935del"	"r.(?)"	"p.(Gln312Argfs*55)"	""
"0001022230"	"00007125"	"50"	"146"	"0"	"146"	"0"	"c.146A>G"	"r.146A>G"	"p.Tyr49Cys"	"3"
"0001038122"	"00007125"	"50"	"11741"	"0"	"11741"	"0"	"c.*10208G>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000081324"	"0000130420"
"0000081333"	"0000154081"
"0000095548"	"0000154127"