### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KCNC2)
# 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}}"
"KCNC2"	"potassium voltage-gated channel, Shaw-related subfamily, member 2"	"12"	"q14.1"	"unknown"	"NC_000012.11"	"UD_136087926678"	""	"https://www.LOVD.nl/KCNC2"	""	"1"	"6234"	"3747"	"176256"	"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/KCNC2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-12-04 10:55:37"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00010341"	"KCNC2"	"transcript variant 3"	"001"	"NM_153748.2"	""	"NP_715624.1"	""	""	""	"-561"	"2839"	"1677"	"75603528"	"75433858"	""	"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}}"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## 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}}"
"00266658"	""	""	""	"1"	""	"03456"	""	""	"M"	""	"(Italy)"	""	"0"	""	""	""	""
"00413206"	""	""	""	"1"	""	"03132"	""	""	"F"	"no"	"China"	""	""	""	""	""	"Patient 2"
"00413207"	""	""	""	"1"	""	"03132"	""	""	"M"	"no"	"China"	""	"0"	""	""	""	"Patient 1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00266658"	"04270"
"00413206"	"06906"
"00413207"	"06906"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04270, 06906
## Count = 3
"{{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}}"
"0000207402"	"04270"	"00266658"	"03456"	"Isolated (sporadic)"	"00y-08y"	"Early severe epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks"	"00y00m02d"	""	"clusters of tonic spasms"	""	""	""	""	"genetic epileptic encephalopathy"	"epileptic encephalopathy"
"0000305187"	"06906"	"00413206"	"03132"	"Isolated (sporadic)"	""	""	""	"05y"	""	""	""	""	""	""	""
"0000305188"	"06906"	"00413207"	"03132"	"Isolated (sporadic)"	""	""	""	"09y"	""	""	""	""	""	"DEE"	"intractable epilepsy"


## 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}}"
"0000267785"	"00266658"	"1"	"03456"	"03456"	"2019-10-29 08:21:56"	""	""	"SEQ-NG-IT"	"DNA"	""	"WES"
"0000414476"	"00413206"	"1"	"03132"	"03132"	"2022-07-12 10:05:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000414478"	"00413207"	"1"	"03132"	"03132"	"2022-07-12 10:36:37"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000267785"	"KCNC2"
"0000414476"	"KCNC2"
"0000414478"	"KCNC2"


## 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 = 11
"{{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}}"
"0000549142"	"0"	"50"	"12"	"75601226"	"75601226"	"subst"	"0"	"01804"	"KCNC2_000002"	"g.75601226C>T"	""	""	""	"KCNC2(NM_139137.3):c.538G>A (p.(Gly180Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75207446C>T"	""	"VUS"	""
"0000599312"	"0"	"70"	"12"	"75444374"	"75444374"	"subst"	"0"	"03456"	"KCNC2_000003"	"g.75444374C>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.75050594C>G"	""	"likely pathogenic (dominant)"	""
"0000853525"	"0"	"30"	"12"	"75434927"	"75434927"	"subst"	"6.14078E-5"	"01943"	"KCNC2_000004"	"g.75434927G>A"	""	""	""	"KCNC2(NM_001260498.1):c.1840C>T (p.H614Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000872152"	"0"	"70"	"12"	"75444572"	"75444572"	"subst"	"0"	"03132"	"KCNC2_000005"	"g.75444572T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.75050792T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000872153"	"0"	"70"	"12"	"75444572"	"75444572"	"subst"	"0"	"03132"	"KCNC2_000005"	"g.75444572T>C"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.75050792T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000930147"	"0"	"10"	"12"	"75601389"	"75601389"	"subst"	"0.0864253"	"02326"	"KCNC2_000006"	"g.75601389G>A"	""	""	""	"KCNC2(NM_001260497.2):c.375C>T (p.C125=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000980468"	"0"	"50"	"12"	"75601151"	"75601151"	"subst"	"0"	"01804"	"KCNC2_000007"	"g.75601151A>G"	""	""	""	"KCNC2(NM_139137.4):c.613T>C (p.(Ser205Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000327"	"0"	"50"	"12"	"75441931"	"75441931"	"subst"	"0"	"01804"	"KCNC2_000008"	"g.75441931A>G"	""	""	""	"KCNC2(NM_139137.3):c.1780+2T>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000328"	"0"	"50"	"12"	"75444212"	"75444212"	"subst"	"0"	"01804"	"KCNC2_000009"	"g.75444212A>G"	""	""	""	"KCNC2(NM_139137.3):c.1573T>C (p.(Cys525Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000329"	"0"	"30"	"12"	"75601544"	"75601544"	"subst"	"0"	"01804"	"KCNC2_000010"	"g.75601544G>A"	""	""	""	"KCNC2(NM_139137.3):c.220C>T (p.(Pro74Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001065786"	"0"	"50"	"12"	"75434890"	"75434890"	"subst"	"4.37518E-6"	"01804"	"KCNC2_000011"	"g.75434890A>C"	""	""	""	"KCNC2(NM_001260498.2):c.1877T>G (p.(Leu626Arg))"	"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 KCNC2
## Count = 11
"{{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}}"
"0000549142"	"00010341"	"50"	"538"	"0"	"538"	"0"	"c.538G>A"	"r.(?)"	"p.(Gly180Ser)"	""
"0000599312"	"00010341"	"70"	"1411"	"0"	"1411"	"0"	"c.1411G>C"	"r.(?)"	"p.(Val471Leu)"	""
"0000853525"	"00010341"	"30"	"1770"	"0"	"1770"	"0"	"c.*93C>T"	"r.(=)"	"p.(=)"	""
"0000872152"	"00010341"	"70"	"1213"	"0"	"1213"	"0"	"c.1213A>G"	"r.(?)"	"p.(Arg405Gly)"	""
"0000872153"	"00010341"	"70"	"1213"	"0"	"1213"	"0"	"c.1213A>G"	"r.(?)"	"p.(Arg405Gly)"	""
"0000930147"	"00010341"	"10"	"375"	"0"	"375"	"0"	"c.375C>T"	"r.(?)"	"p.(=)"	""
"0000980468"	"00010341"	"50"	"613"	"0"	"613"	"0"	"c.613T>C"	"r.(?)"	"p.(Ser205Pro)"	""
"0001000327"	"00010341"	"50"	"1615"	"2239"	"1615"	"2239"	"c.1615+2239T>C"	"r.(=)"	"p.(=)"	""
"0001000328"	"00010341"	"50"	"1573"	"0"	"1573"	"0"	"c.1573T>C"	"r.(?)"	"p.(Cys525Arg)"	""
"0001000329"	"00010341"	"30"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Pro74Ser)"	""
"0001065786"	"00010341"	"50"	"1807"	"0"	"1807"	"0"	"c.*130T>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000267785"	"0000599312"
"0000414476"	"0000872152"
"0000414478"	"0000872153"