### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IQCE)
# 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}}"
"IQCE"	"IQ motif containing E"	"7"	"p22.3"	"unknown"	"NC_000007.13"	"UD_132438005785"	""	"https://www.LOVD.nl/IQCE"	""	"1"	"29171"	"23288"	"0"	"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/IQCE_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2017-01-13 21:53:56"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00010106"	"IQCE"	"transcript variant 1"	"001"	"NM_152558.3"	""	"NP_689771.3"	""	""	""	"-184"	"6660"	"2088"	"2598632"	"2654368"	""	"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}}"
"00300"	"PAPA1;PAPB"	"polydactyly, postaxial, type A1 (PAPA-1, type B included (PAPB))"	"AD"	"174200"	""	"autosomal dominant"	""	"00006"	"2014-01-19 11:19:19"	"00006"	"2021-12-10 21:51:32"
"05627"	"PAPA7"	"polydactyly, postaxial, type A7 (PAPA-7)"	"AR"	"617642"	""	"autosomal ecessive"	""	"00006"	"2019-07-23 08:57:12"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"IQCE"	"05627"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00095221"	""	""	""	"4"	""	"01867"	""	"post axial polydactyly in 4 affected individuals"	"M"	"yes"	"Pakistan"	""	"0"	"18y, 12y"	"surgery"	"Pastoon"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00095221"	"00300"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00300, 05627
## 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}}"
"0000073719"	"00300"	"00095221"	"01867"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000095619"	"00095221"	"1"	"01867"	"01867"	"2017-01-12 09:26:51"	""	""	"SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000095619"	"IQCE"


## 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 = 13
"{{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}}"
"0000154206"	"3"	"90"	"7"	"2613051"	"2613051"	"subst"	"1.24453E-5"	"01867"	"IQCE_000001"	"g.2613051G>A"	""	""	""	"g.14420G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.2573417G>A"	""	"pathogenic"	""
"0000611028"	"0"	"30"	"7"	"2632707"	"2632707"	"subst"	"4.10529E-5"	"01943"	"IQCE_000002"	"g.2632707G>A"	""	""	""	"IQCE(NM_152558.5):c.1296G>A (p.L432=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2593073G>A"	""	"likely benign"	""
"0000678086"	"0"	"30"	"7"	"2649765"	"2649765"	"subst"	"0.0159356"	"01804"	"IQCE_000003"	"g.2649765C>T"	""	""	""	"IQCE(NM_001100390.1):c.2009C>T (p.(Pro670Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000689984"	"0"	"90"	"7"	"2629539"	"2629539"	"del"	"5.29683E-5"	"01943"	"IQCE_000004"	"g.2629539del"	""	""	""	"IQCE(NM_152558.5):c.1045-2delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000721421"	"0"	"50"	"7"	"2623271"	"2623271"	"subst"	"0.00252111"	"01943"	"IQCE_000005"	"g.2623271C>G"	""	""	""	"IQCE(NM_152558.5):c.702C>G (p.S234R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000803114"	"0"	"90"	"7"	"2625912"	"2625921"	"del"	"0"	"01943"	"IQCE_000006"	"g.2625912_2625921del"	""	""	""	"IQCE(NM_152558.5):c.895_904delCGGAGTGTCC (p.V301Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000803115"	"0"	"70"	"7"	"2625912"	"2625921"	"del"	"0"	"02325"	"IQCE_000006"	"g.2625912_2625921del"	""	""	""	"IQCE(NM_152558.5):c.895_904delCGGAGTGTCC (p.V301Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000803116"	"0"	"50"	"7"	"2646978"	"2646978"	"dup"	"0"	"01943"	"IQCE_000007"	"g.2646978dup"	""	""	""	"IQCE(NM_001287499.1):c.2086dupC (p.H696Pfs*66)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000851581"	"0"	"50"	"7"	"2617938"	"2617938"	"subst"	"0.000247756"	"01943"	"IQCE_000009"	"g.2617938G>C"	""	""	""	"IQCE(NM_152558.5):c.528G>C (p.E176D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000860730"	"0"	"50"	"7"	"2608628"	"2608628"	"subst"	"0.000142231"	"01943"	"IQCE_000008"	"g.2608628C>T"	""	""	""	"IQCE(NM_152558.5):c.125C>T (p.S42L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000977665"	"0"	"30"	"7"	"2644537"	"2644537"	"subst"	"0.000520549"	"01804"	"IQCE_000010"	"g.2644537C>G"	""	""	""	"IQCE(NM_152558.5):c.1655C>G (p.(Ala552Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977666"	"0"	"30"	"7"	"2646805"	"2646805"	"subst"	"0.00185167"	"01804"	"IQCE_000011"	"g.2646805C>G"	""	""	""	"IQCE(NM_152558.5):c.1913C>G (p.(Ser638Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001052576"	"0"	"50"	"7"	"2594008"	"2594008"	"subst"	"2.03074E-5"	"01804"	"BRAT1_000066"	"g.2594008T>A"	""	""	""	"BRAT1(NM_152743.4):c.58A>T (p.(Arg20Trp))"	"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 IQCE
## Count = 13
"{{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}}"
"0000154206"	"00010106"	"90"	"395"	"-1"	"395"	"-1"	"c.395-1G>A"	"r.spl?"	"p.(Gly132Valfs*22)"	"5i"
"0000611028"	"00010106"	"30"	"1296"	"0"	"1296"	"0"	"c.1296G>A"	"r.(?)"	"p.(Leu432=)"	""
"0000678086"	"00010106"	"30"	"2057"	"0"	"2057"	"0"	"c.2057C>T"	"r.(?)"	"p.(Pro686Leu)"	""
"0000689984"	"00010106"	"90"	"1045"	"-2"	"1045"	"-2"	"c.1045-2del"	"r.spl?"	"p.?"	""
"0000721421"	"00010106"	"50"	"702"	"0"	"702"	"0"	"c.702C>G"	"r.(?)"	"p.(Ser234Arg)"	""
"0000803114"	"00010106"	"90"	"895"	"0"	"904"	"0"	"c.895_904del"	"r.(?)"	"p.(Val301Serfs*8)"	""
"0000803115"	"00010106"	"70"	"895"	"0"	"904"	"0"	"c.895_904del"	"r.(?)"	"p.(Val301Serfs*8)"	""
"0000803116"	"00010106"	"50"	"1969"	"117"	"1969"	"117"	"c.1969+117dup"	"r.(=)"	"p.(=)"	""
"0000851581"	"00010106"	"50"	"528"	"0"	"528"	"0"	"c.528G>C"	"r.(?)"	"p.(Glu176Asp)"	""
"0000860730"	"00010106"	"50"	"125"	"0"	"125"	"0"	"c.125C>T"	"r.(?)"	"p.(Ser42Leu)"	""
"0000977665"	"00010106"	"30"	"1655"	"0"	"1655"	"0"	"c.1655C>G"	"r.(?)"	"p.(Ala552Gly)"	""
"0000977666"	"00010106"	"30"	"1913"	"0"	"1913"	"0"	"c.1913C>G"	"r.(?)"	"p.(Ser638Trp)"	""
"0001052576"	"00010106"	"50"	"-4808"	"0"	"-4808"	"0"	"c.-4808T>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000095619"	"0000154206"