### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KITLG)
# 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}}"
"KITLG"	"KIT ligand"	"12"	"q22"	"unknown"	"NG_012098.1"	"UD_132084414415"	""	"http://www.LOVD.nl/KITLG"	""	"1"	"6343"	"4254"	"184745"	"1"	"1"	"1"	"1"	"We gratefully acknowledge the work of <b>Celia Zazo-Seco</b>, acting as a curator for this database from 2013-2015.\r\nEstablishment 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/KITLG_NM_000899.4_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-10-09 16:17:32"	"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}}"
"00023954"	"KITLG"	"transcript variant b"	"002"	"NM_000899.4"	""	"NP_000890.1"	""	""	""	"-195"	"5248"	"822"	"88974250"	"88886570"	"00006"	"2014-07-21 16:56:57"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 11
"{{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"
"00350"	"DFNA1"	"deafness, autosomal dominant, type 1"	"AD"	"124900"	""	""	""	"00081"	"2014-03-13 13:45:31"	"00006"	"2021-12-10 21:51:32"
"00466"	"SHEP7"	"pigmentation, hair, blond/brown, type 7 (SHEP-7, skin/hair/eye pigmentation)"	""	"611664"	""	""	""	"00006"	"2014-07-21 17:01:43"	"00006"	"2021-12-10 21:51:32"
"00467"	"assoc."	"association with"	""	""	""	""	""	"00006"	"2014-07-21 21:06:28"	"00006"	"2014-07-22 21:55:38"
"00468"	"FPHH"	"hyperpigmentation, progressive, familial (FPHH)"	"AD"	"145250"	""	""	""	"00006"	"2014-07-21 21:36:41"	"00006"	"2021-12-10 21:51:32"
"01605"	"WS2A"	"Waardenburg syndrome, type 2A (WS2A)"	"AD"	"193510"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05537"	"OCA"	"albinism, oculocutaneous"	""	""	""	""	""	"00006"	"2018-12-22 14:35:14"	""	""
"05667"	"WS"	"Waardenburg syndrome (WS)"	""	""	""	""	""	"00008"	"2019-10-30 16:28:42"	"00006"	"2021-12-10 21:51:32"
"06168"	"DFNA69"	"Deafness, autosomal dominant 69, unilateral or asymmetric"	"AD"	"616697"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"KITLG"	"00466"
"KITLG"	"00468"
"KITLG"	"06168"


## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{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}}"
"00018552"	""	""	""	"1"	""	"00006"	"{PMID:Sulem 2007:17952075}"	""	"-"	"-"	"Iceland;Netherlands"	""	"0"	""	""	""	""
"00018553"	""	""	""	"18"	""	"00006"	"{PMID:Wang 2009:19375057}"	"6-generation family, 18 affecteds (9F, 9M)"	"-"	"no"	"China"	""	"0"	""	""	""	""
"00018554"	""	""	""	"1"	""	"00006"	"{PMID:Miller 2007:18083106}"	""	"-"	"-"	"United States"	""	"0"	""	""	"African, white"	""
"00037766"	""	""	""	"1"	""	"00784"	"{PMID:Zeco 2015:26522471}, {DOI:Zeco 2015:10.1016/j.ajhg.2015.09.011}"	"2-generation family, affected male and heterozygous carrier mother (phenotype unknown)"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00037767"	""	""	""	"3"	""	"00784"	"{PMID:Zeco 2015:26522471}, {DOI:Zeco 2015:10.1016/j.ajhg.2015.09.011}"	"3-generation family, 3 affecteds (grand mother, son, grandson)"	"F;M"	"no"	"Spain"	""	"0"	""	""	""	""
"00037770"	""	""	""	"13"	""	"00784"	"{PMID:Zeco 2015:26522471}, {DOI:Zeco 2015:10.1016/j.ajhg.2015.09.011}"	"5-generation family, 13 affecteds (7F, 6M)"	"F;M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00284917"	""	""	""	"1"	""	"00004"	"{PMID:Zazo Seco 2015:26522471}"	""	""	""	""	""	"0"	""	""	""	""
"00284918"	""	""	""	"1"	""	"00004"	"{PMID:Zazo Seco 2015:26522471}"	""	""	""	""	""	"0"	""	""	""	""
"00284919"	""	""	""	"1"	""	"00004"	"{PMID:Amyere 2011:21368769}, {PMID:Zanardo 2004:15040480}, {PMID:Wang 2009:19375057}"	""	""	""	""	""	"0"	""	""	""	""
"00284920"	""	""	""	"1"	""	"00004"	"{PMID:Amyere 2011:21368769}"	""	""	""	""	""	"0"	""	""	""	""
"00284921"	""	""	""	"1"	""	"00004"	"{PMID:Amyere 2011:21368769}, {PMID:Hoo 2005:15551335}"	""	""	""	""	""	"0"	""	""	""	""
"00385120"	""	""	""	"1"	""	"02404"	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00385121"	""	""	""	"1"	""	"02404"	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00385122"	""	""	""	"1"	""	"02404"	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00385123"	""	""	""	"1"	""	"02404"	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	"F"	"?"	""	""	"0"	""	""	""	""
"00385124"	""	""	""	"1"	""	"02404"	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00385125"	""	""	""	"1"	""	"02404"	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00441519"	""	""	""	"1"	""	"00006"	"{PMID:Boucher 2020:33229591}"	""	""	""	"France"	""	"0"	""	""	""	"6403"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18
"{{individualid}}"	"{{diseaseid}}"
"00018552"	"00466"
"00018552"	"00467"
"00018553"	"00468"
"00018554"	"00467"
"00037766"	"01605"
"00037767"	"00350"
"00037770"	"00350"
"00284918"	"05103"
"00284919"	"00198"
"00284920"	"00198"
"00284921"	"00198"
"00385120"	"05667"
"00385121"	"05667"
"00385122"	"05667"
"00385123"	"05667"
"00385124"	"00198"
"00385125"	"05537"
"00441519"	"05086"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00466, 00467, 00468, 01605, 05086, 05103, 05537, 05667, 06168
## Count = 17
"{{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}}"
"0000016898"	"00466"	"00018552"	"00006"	"-"	""	"associated with blond versus brown hair, OR 1.9-2.4, P-total 3.8 x 10-30"	""	""	""	""	""	""	""	""	""	""	""
"0000016899"	"00467"	"00018552"	"00006"	"-"	""	"no association with blue vs. brown eyes, blue vs. green eyes, red vs. non-red hair, skin sun sensitivity, freckles"	""	""	""	""	""	""	""	""	""	""	""
"0000016900"	"00468"	"00018553"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016901"	"00467"	"00018554"	"00006"	"Familial"	""	"association with light skin color"	""	""	""	""	""	""	""	""	""	""	""
"0000060257"	"01605"	"00037766"	"00569"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060258"	"00350"	"00037767"	"00569"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060259"	"00350"	"00037770"	"00569"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000217122"	"00198"	"00284919"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Progressive hyperpigmentation"	""
"0000217123"	"00198"	"00284920"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Progressive hyper- and hypopigmentation"	""
"0000217124"	"00198"	"00284921"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Progressive hyper- and hypopigmentation"	""
"0000218557"	"05103"	"00284918"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"deafness, congenital,  unilateral or asymmetric"	""
"0000278902"	"05667"	"00385120"	"02404"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	"Waardenburg syndrome"	""
"0000278903"	"05667"	"00385121"	"02404"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	"Waardenburg syndrome"	""
"0000278904"	"05667"	"00385122"	"02404"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	"Waardenburg syndrome"	""
"0000278905"	"05667"	"00385123"	"02404"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	"Waardenburg syndrome"	""
"0000278906"	"05537"	"00385125"	"02404"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"OCA"	"OCA"	""
"0000330957"	"05086"	"00441519"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"simplex/sporadic age-related hearing loss"	""


## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000018536"	"00018552"	"1"	"00006"	"00006"	"2014-07-21 20:57:25"	""	""	"arraySNP"	"DNA"	""	""
"0000018537"	"00018553"	"1"	"00006"	"00006"	"2014-07-21 21:39:27"	""	""	"SEQ"	"DNA"	""	""
"0000018538"	"00018554"	"1"	"00006"	"00006"	"2014-07-21 22:06:09"	""	""	"arraySNP"	"DNA"	""	""
"0000037999"	"00037766"	"1"	"00784"	"00569"	"2015-05-04 11:12:41"	""	""	"PCR"	"DNA"	"blood"	""
"0000038000"	"00037767"	"1"	"00784"	"00569"	"2015-05-04 11:24:57"	""	""	"PCR"	"DNA"	"blood"	""
"0000038001"	"00037770"	"1"	"00784"	"00569"	"2015-05-04 11:29:41"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000286067"	"00284917"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286068"	"00284918"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286069"	"00284919"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286070"	"00284920"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286071"	"00284921"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000386349"	"00385120"	"1"	"02404"	"02404"	"2021-10-07 19:46:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000386350"	"00385121"	"1"	"02404"	"02404"	"2021-10-07 19:53:01"	""	""	"SEQ-NG-I"	"DNA"	""	"Clinical exome sequencing"
"0000386351"	"00385122"	"1"	"02404"	"02404"	"2021-10-07 19:58:24"	""	""	"SEQ-NG"	"DNA"	""	"Genome sequencing"
"0000386352"	"00385123"	"1"	"02404"	"02404"	"2021-10-07 20:03:02"	""	""	"SEQ-NG"	"DNA"	""	"Twist Human Core Exome Plus"
"0000386353"	"00385124"	"1"	"02404"	"02404"	"2021-10-07 20:11:51"	""	""	"SEQ-NG"	"DNA"	""	"Genome sequencing"
"0000386354"	"00385125"	"1"	"02404"	"02404"	"2021-10-07 20:15:49"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000443005"	"00441519"	"1"	"00006"	"00006"	"2023-11-08 15:20:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{geneid}}"
"0000018536"	"KITLG"
"0000018537"	"KITLG"
"0000018538"	"KITLG"
"0000037999"	"KITLG"
"0000038000"	"KITLG"
"0000038001"	"KITLG"
"0000286067"	"KITLG"
"0000286068"	"KITLG"
"0000286069"	"KITLG"
"0000286070"	"KITLG"
"0000286071"	"KITLG"


## 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 = 33
"{{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}}"
"0000039002"	"1"	"90"	"12"	"89328335"	"89328335"	"subst"	"0"	"00006"	"KITLG_000001"	"g.89328335T>C"	""	"{PMID:Guenther 2014:24880339}"	""	""	"reduced LEF1 binding; KITLG expression 20% reduced in hair follicles; influences hair pigmentation, shift towards blond"	"In vitro (cloned)"	"-"	"rs12821256"	"0"	""	""	"g.88934558T>C"	""	"NA"	""
"0000039003"	"0"	"50"	"12"	"89328335"	"89328335"	"subst"	"0"	"00006"	"KITLG_000001"	"g.89328335T>C"	""	"{PMID:Sulem 2007:17952075}, {OMIM184745:0001}"	""	""	"variant frequency 0.80, 0.63 and 0.03 in CEU, East Asian and YRI HapMap samples"	"Not applicable"	"-"	"rs12821256"	"0"	""	""	"g.88934558T>C"	""	"VUS"	""
"0000039004"	"1"	"90"	"12"	"88939551"	"88939551"	"subst"	"0"	"00006"	"KITLG_000002"	"g.88939551T>C"	""	"{PMID:Wang 2007:19375057}, {OMIM184745:0003}"	""	""	"mapped by linkage; not in 592 control chromosomes"	"Germline"	"yes"	"rs121918653"	"0"	""	""	"g.88545774T>C"	""	"pathogenic"	""
"0000039005"	"0"	"90"	"12"	"88939551"	"88939551"	"subst"	"0"	"00006"	"KITLG_000002"	"g.88939551T>C"	""	"{PMID:Wang 2007:19375057}"	""	""	"expression cloning A375 human pigmented melanoma cells doubles melanin content (2.09)"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.88545774T>C"	""	"NA"	""
"0000039006"	"0"	"50"	"12"	"89328335"	"89328335"	"subst"	"0"	"00006"	"KITLG_000001"	"g.89328335T>C"	""	"{PMID:Miller 2007:18083106}, {OMIM184745:0002)"	""	""	"on 30 unit melanin scale (West African vs. European skin) 1 allele reduces ˜3.8 units (homozygotes 6-7 units); A allele 0.92 in West Africans, 0.14 in Europeans/East Asians"	"Germline"	"yes"	"rs642742"	"0"	""	""	"g.88934558T>C"	""	"VUS"	""
"0000065309"	"21"	"90"	"12"	"88912527"	"88912527"	"subst"	"0"	"00784"	"KITLG_000003"	"g.88912527G>C"	""	"{PMID:Zeco 2015:26522471}, {DOI:Zeco 2015:10.1016/j.ajhg.2015.09.011}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88518750G>C"	""	"pathogenic"	""
"0000065310"	"1"	"90"	"12"	"88912635"	"88912637"	"del"	"0"	"00784"	"KITLG_000004"	"g.88912635_88912637del"	""	"{PMID:Zeco 2015:26522471}, {DOI:Zeco 2015:10.1016/j.ajhg.2015.09.011}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88518858_88518860del"	""	"pathogenic"	""
"0000065311"	"1"	"90"	"12"	"88912534"	"88912551"	"delins"	"0"	"00784"	"KITLG_000005"	"g.88912534_88912551delinsA"	""	"{PMID:Zeco 2015:26522471}, {DOI:Zeco 2015:10.1016/j.ajhg.2015.09.011}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88518757_88518774delinsA"	""	"pathogenic"	""
"0000290401"	"0"	"50"	"12"	"88909331"	"88909331"	"subst"	"0"	"01943"	"KITLG_000006"	"g.88909331T>A"	""	""	""	"KITLG(NM_000899.4):c.584A>T (p.N195I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88515554T>A"	""	"VUS"	""
"0000549438"	"0"	"30"	"12"	"88898987"	"88898987"	"subst"	"0"	"01804"	"KITLG_000007"	"g.88898987A>G"	""	""	""	"KITLG(NM_000899.4):c.808T>C (p.(Phe270Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88505210A>G"	""	"likely benign"	""
"0000549440"	"0"	"30"	"12"	"88909373"	"88909373"	"subst"	"0"	"01804"	"KITLG_000009"	"g.88909373T>C"	""	""	""	"KITLG(NM_000899.4):c.542A>G (p.(Lys181Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88515596T>C"	""	"likely benign"	""
"0000614419"	"0"	"30"	"12"	"88900820"	"88900820"	"subst"	"4.47897E-5"	"01943"	"KITLG_000010"	"g.88900820T>C"	""	""	""	"KITLG(NM_000899.4):c.699A>G (p.G233=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88507043T>C"	""	"likely benign"	""
"0000614420"	"0"	"30"	"12"	"88909312"	"88909312"	"subst"	"1.63598E-5"	"01943"	"KITLG_000011"	"g.88909312A>G"	""	""	""	"KITLG(NM_000899.4):c.603T>C (p.N201=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88515535A>G"	""	"likely benign"	""
"0000622990"	"0"	"30"	"12"	"88926233"	"88926233"	"subst"	"0.00145656"	"01943"	"KITLG_000012"	"g.88926233G>A"	""	""	""	"KITLG(NM_000899.4):c.177C>T (p.P59=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88532456G>A"	""	"likely benign"	""
"0000641809"	"1"	"55"	"12"	"88912527"	"88912527"	"subst"	"0"	"00004"	"KITLG_000003"	"g.88912527G>C"	""	"{DB:DVD}, {PMID:Zazo Seco 2015:26522471}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.88518750G>C"	""	"VUS"	""
"0000641810"	"1"	"99"	"12"	"88912635"	"88912637"	"del"	"0"	"00004"	"KITLG_000004"	"g.88912635_88912637del"	""	"{DB:DVD}, {PMID:Zazo Seco 2015:26522471}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.88518858_88518860del"	""	"pathogenic"	""
"0000641811"	"1"	"99"	"12"	"88939551"	"88939551"	"subst"	"0"	"00004"	"KITLG_000002"	"g.88939551T>C"	""	"{DB:DVD}, {PMID:Amyere 2011:21368769}, {PMID:Zanardo 2004:15040480}, {PMID:Wang 2009:19375057}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.88545774T>C"	""	"pathogenic"	""
"0000641812"	"1"	"99"	"12"	"88939558"	"88939558"	"subst"	"0"	"00004"	"KITLG_000013"	"g.88939558T>G"	""	"{DB:DVD}, {PMID:Amyere 2011:21368769}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.88545781T>G"	""	"pathogenic"	""
"0000641813"	"1"	"99"	"12"	"88939560"	"88939560"	"subst"	"0"	"00004"	"KITLG_000014"	"g.88939560A>G"	""	"{DB:DVD}, {PMID:Amyere 2011:21368769}, {PMID:Hoo 2005:15551335}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.88545783A>G"	""	"pathogenic"	""
"0000679680"	"0"	"30"	"12"	"88939555"	"88939555"	"subst"	"4.07385E-6"	"01943"	"KITLG_000015"	"g.88939555T>C"	""	""	""	"KITLG(NM_000899.4):c.103A>G (p.N35D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724290"	"0"	"10"	"12"	"88890521"	"88890521"	"subst"	"0"	"02327"	"KITLG_000016"	"g.88890521C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000724291"	"0"	"10"	"12"	"88890671"	"88890671"	"subst"	"0"	"02327"	"KITLG_000017"	"g.88890671A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000724292"	"0"	"30"	"12"	"88912552"	"88912552"	"subst"	"0"	"01943"	"KITLG_000018"	"g.88912552C>T"	""	""	""	"KITLG(NM_000899.4):c.285G>A (p.L95=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000813831"	"3"	"70"	"12"	"88939564"	"88939564"	"subst"	"0"	"02404"	"KITLG_000019"	"g.88939564G>A"	""	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000813832"	"3"	"70"	"12"	"88910188"	"88910188"	"subst"	"4.0816E-6"	"02404"	"KITLG_000023"	"g.88910188A>G"	""	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000813833"	"3"	"70"	"12"	"88939564"	"88939564"	"subst"	"0"	"02404"	"KITLG_000019"	"g.88939564G>A"	""	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000813834"	"0"	"50"	"12"	"88898994"	"88898997"	"del"	"0"	"02404"	"KITLG_000020"	"g.88898994_88898997del"	""	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	""	"Child is adopted without opportunity to test variant in parents."	"Unknown"	"?"	""	"0"	""	""	"g.88505217_88505220del"	""	"VUS (!)"	"ACMG"
"0000813835"	"3"	"90"	"12"	"88909365"	"88909366"	"del"	"0"	"02404"	"KITLG_000021"	"g.88909365_88909366del"	""	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88515588_88515589del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000813836"	"3"	"70"	"12"	"88900875"	"88900875"	"subst"	"0"	"02404"	"KITLG_000022"	"g.88900875C>T"	""	"{PMID:Vona 2022:35543077}, {DOI:Vona 2022:10.1111/jdv.18207}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000853544"	"0"	"50"	"12"	"88939524"	"88939524"	"subst"	"0"	"02327"	"KITLG_000024"	"g.88939524C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000944364"	"0"	"70"	"12"	"88900157"	"88900157"	"subst"	"4.4773E-5"	"00006"	"KITLG_000025"	"g.88900157T>C"	""	"{PMID:Boucher 2020:33229591}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88506380T>C"	""	"likely pathogenic (dominant)"	""
"0001000361"	"0"	"50"	"12"	"88898992"	"88898997"	"del"	"0"	"02329"	"KITLG_000026"	"g.88898992_88898997del"	""	""	""	"KITLG(NM_000899.5):c.802_807delAGAGAG (p.R268_E269del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054437"	"0"	"50"	"12"	"88926232"	"88926232"	"subst"	"1.63531E-5"	"01804"	"KITLG_000027"	"g.88926232C>T"	""	""	""	"KITLG(NM_000899.5):c.178G>A (p.(Gly60Arg))"	"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 KITLG
## Count = 33
"{{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}}"
"0000039002"	"00023954"	"90"	"-354280"	"0"	"-354280"	"0"	"c.-354280A>G"	"r.(=)"	"p.(=)"	"_1"
"0000039003"	"00023954"	"50"	"-354280"	"0"	"-354280"	"0"	"c.-354280A>G"	"r.(=)"	"p.(=)"	"_1"
"0000039004"	"00023954"	"90"	"107"	"0"	"107"	"0"	"c.107A>G"	"r.(?)"	"p.(Asn36Ser)"	"2"
"0000039005"	"00023954"	"90"	"107"	"0"	"107"	"0"	"c.107A>G"	"r.(?)"	"p.Asn36Ser"	"2"
"0000039006"	"00023954"	"50"	"-354280"	"0"	"-354280"	"0"	"c.-354280A>G"	"r.(=)"	"p.(=)"	"_1"
"0000065309"	"00023954"	"90"	"310"	"0"	"310"	"0"	"c.310C>G"	"r.(?)"	"p.(Leu104Val)"	"4"
"0000065310"	"00023954"	"90"	"200"	"0"	"202"	"0"	"c.200_202del"	"r.(?)"	"p.(His67_Cys68delinsArg)"	"4"
"0000065311"	"00023954"	"90"	"286"	"0"	"303"	"0"	"c.286_303delinsT"	"r.(?)"	"p.(Ser96*)"	"4"
"0000290401"	"00023954"	"50"	"584"	"0"	"584"	"0"	"c.584A>T"	"r.(?)"	"p.(Asn195Ile)"	""
"0000549438"	"00023954"	"30"	"808"	"0"	"808"	"0"	"c.808T>C"	"r.(?)"	"p.(Phe270Leu)"	""
"0000549440"	"00023954"	"30"	"542"	"0"	"542"	"0"	"c.542A>G"	"r.(?)"	"p.(Lys181Arg)"	""
"0000614419"	"00023954"	"30"	"699"	"0"	"699"	"0"	"c.699A>G"	"r.(?)"	"p.(Gly233=)"	""
"0000614420"	"00023954"	"30"	"603"	"0"	"603"	"0"	"c.603T>C"	"r.(?)"	"p.(Asn201=)"	""
"0000622990"	"00023954"	"30"	"177"	"0"	"177"	"0"	"c.177C>T"	"r.(?)"	"p.(Pro59=)"	""
"0000641809"	"00023954"	"55"	"310"	"0"	"310"	"0"	"c.310C>G"	"r.(?)"	"p.(Leu104Val)"	"4"
"0000641810"	"00023954"	"99"	"200"	"0"	"202"	"0"	"c.200_202del"	"r.(?)"	"p.(His67_Cys68delinsArg)"	"4"
"0000641811"	"00023954"	"99"	"107"	"0"	"107"	"0"	"c.107A>G"	"r.(?)"	"p.(Asn36Ser)"	"2"
"0000641812"	"00023954"	"99"	"100"	"0"	"100"	"0"	"c.100A>C"	"r.(?)"	"p.(Thr34Pro)"	"2"
"0000641813"	"00023954"	"99"	"98"	"0"	"98"	"0"	"c.98T>C"	"r.(?)"	"p.(Val33Ala)"	"2"
"0000679680"	"00023954"	"30"	"103"	"0"	"103"	"0"	"c.103A>G"	"r.(?)"	"p.(Asn35Asp)"	""
"0000724290"	"00023954"	"10"	"1297"	"0"	"1297"	"0"	"c.*475G>A"	"r.(=)"	"p.(=)"	""
"0000724291"	"00023954"	"10"	"1147"	"0"	"1147"	"0"	"c.*325T>C"	"r.(=)"	"p.(=)"	""
"0000724292"	"00023954"	"30"	"285"	"0"	"285"	"0"	"c.285G>A"	"r.(?)"	"p.(Leu95=)"	""
"0000813831"	"00023954"	"70"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Arg32Cys)"	"2"
"0000813832"	"00023954"	"70"	"443"	"0"	"443"	"0"	"c.443T>C"	"r.(?)"	"p.(Ile148Thr)"	"5"
"0000813833"	"00023954"	"70"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Arg32Cys)"	"2"
"0000813834"	"00023954"	"50"	"804"	"0"	"8807"	"0"	"c.804_8807del"	"r.(?)"	"p.(Arg268Serfs*29)"	"9"
"0000813835"	"00023954"	"90"	"550"	"0"	"551"	"0"	"c.550_551del"	"r.(?)"	"p.(Met184Valfs*10)"	"6"
"0000813836"	"00023954"	"70"	"644"	"0"	"644"	"0"	"c.644G>A"	"r.(?)"	"p.(Trp215*)"	"7"
"0000853544"	"00023954"	"50"	"129"	"5"	"129"	"5"	"c.129+5G>A"	"r.spl?"	"p.?"	""
"0000944364"	"00023954"	"70"	"715"	"-2"	"715"	"-2"	"c.715-2A>G"	"r.spl"	"p.?"	""
"0001000361"	"00023954"	"50"	"802"	"0"	"807"	"0"	"c.802_807del"	"r.(?)"	"p.(Arg268_Glu269del)"	""
"0001054437"	"00023954"	"50"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}"	"{{variantid}}"
"0000018536"	"0000039003"
"0000018537"	"0000039004"
"0000018538"	"0000039006"
"0000037999"	"0000065309"
"0000038000"	"0000065310"
"0000038001"	"0000065311"
"0000286067"	"0000641809"
"0000286068"	"0000641810"
"0000286069"	"0000641811"
"0000286070"	"0000641812"
"0000286071"	"0000641813"
"0000386349"	"0000813831"
"0000386350"	"0000813832"
"0000386351"	"0000813833"
"0000386352"	"0000813834"
"0000386353"	"0000813835"
"0000386354"	"0000813836"
"0000443005"	"0000944364"