### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MKRN3)
# 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}}"
"MKRN3"	"makorin ring finger protein 3"	"15"	"q11-q13"	"unknown"	"NG_012875.3"	"UD_132118872191"	""	"http://www.LOVD.nl/MKRN3"	""	"1"	"7114"	"7681"	"603856"	"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/MKRN3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-10-11 13:46:28"	"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}}"
"00013665"	"MKRN3"	"makorin ring finger protein 3"	"001"	"NM_005664.3"	""	"NP_005655.1"	""	""	""	"-476"	"2238"	"1524"	"23810454"	"23813167"	""	"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}}"
"00388"	"KBGS"	"KBG syndrome (KBGS)"	"AD"	"148050"	""	"autosomal dominant"	""	"00006"	"2014-05-29 10:09:45"	"00006"	"2021-12-10 21:51:32"
"03900"	"CPPB2"	"precocious puberty, central, type 2 (CPPB-2)"	"AD"	"615346"	""	""	""	"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}}"
"MKRN3"	"03900"


## 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}}"
"00038513"	""	""	""	"1"	""	"01284"	""	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00229577"	""	""	""	"4"	""	"01261"	"{PMID:Yakoreva 2019:31186545}, {DOI:Yakoreva 2019:10.1038/s41431-019-0446-x}"	"extended family, 4 affected, all variant on paternal alelle"	"F"	""	"Estonia"	""	"0"	""	""	""	""
"00432294"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	""	""	"0"	""	""	""	"214326"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00038513"	"03900"
"00229577"	"03900"
"00432294"	"00388"
"00432294"	"03900"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00388, 03900
## 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}}"
"0000061014"	"03900"	"00038513"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""
"0000322861"	"00388"	"00432294"	"01164"	"Unknown"	"10y"	"Generalized non-motor (absence) seizure, Neurodevelopmental delay, Precocious puberty"	""	""	""	""	""	""	""	""	""
"0000322862"	"03900"	"00432294"	"01164"	"Unknown"	"10y"	"Generalized non-motor (absence) seizure, Neurodevelopmental delay, Precocious puberty"	""	""	""	""	""	""	""	""	""


## 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}}"
"0000038756"	"00038513"	"1"	"01284"	"01284"	"2015-05-11 10:18:27"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000230669"	"00229577"	"1"	"01261"	"01261"	"2019-03-30 16:29:47"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSight One panel (4813 genes)"
"0000433734"	"00432294"	"1"	"01164"	"01164"	"2023-02-21 09:34:38"	""	""	"SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000038756"	"MKRN3"
"0000433734"	"ANKRD11"
"0000433734"	"MKRN3"


## 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 = 12
"{{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}}"
"0000066428"	"1"	"70"	"15"	"23811912"	"23811912"	"subst"	"0"	"01284"	"MKRN3_000001"	"g.23811912G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23566765G>A"	""	"likely pathogenic"	""
"0000323897"	"0"	"50"	"15"	"23811354"	"23811354"	"subst"	"0.000448646"	"01804"	"MKRN3_000002"	"g.23811354G>C"	""	""	""	"MKRN3(NM_005664.3):c.425G>C (p.(Gly142Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23566207G>C"	""	"VUS"	""
"0000340902"	"0"	"10"	"15"	"23811592"	"23811592"	"subst"	"0.277405"	"02327"	"MKRN3_000004"	"g.23811592C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23566445C>T"	""	"benign"	""
"0000349804"	"0"	"70"	"15"	"23812254"	"23812254"	"subst"	"4.06072E-6"	"02327"	"MKRN3_000005"	"g.23812254G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23567107G>A"	""	"likely pathogenic"	""
"0000472244"	"11"	"90"	"15"	"23811255"	"23811255"	"subst"	"0"	"01261"	"MKRN3_000006"	"g.23811255G>A"	""	"{PMID:Yakoreva 2019:31186545}, {DOI:Yakoreva 2019:10.1038/s41431-019-0446-x}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.23566108G>A"	""	"likely pathogenic"	""
"0000615169"	"0"	"70"	"15"	"23811476"	"23811476"	"subst"	"0"	"02327"	"MKRN3_000008"	"g.23811476G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23566329G>T"	""	"likely pathogenic"	""
"0000657530"	"0"	"30"	"15"	"23811131"	"23811131"	"subst"	"8.16033E-6"	"01943"	"MKRN3_000009"	"g.23811131C>T"	""	""	""	"MKRN3(NM_005664.3):c.202C>T (p.R68C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23565984C>T"	""	"likely benign"	""
"0000724954"	"0"	"70"	"15"	"23811156"	"23811156"	"del"	"0"	"02329"	"MKRN3_000007"	"g.23811156del"	""	""	""	"MKRN3(NM_005664.4):c.227delC (p.P76Qfs*95)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000724955"	"0"	"50"	"15"	"23811423"	"23811423"	"subst"	"2.8556E-5"	"02330"	"MKRN3_000003"	"g.23811423C>T"	""	""	""	"MKRN3(NM_005664.4):c.494C>T (p.S165F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000919375"	"0"	"50"	"15"	"23812014"	"23812014"	"subst"	"0"	"01164"	"MKRN3_000010"	"g.23812014C>T"	""	""	""	""	"ACMG: PP3_MOD, PM2_SUP"	"Germline"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0001001249"	"0"	"50"	"15"	"23812277"	"23812277"	"subst"	"4.06088E-6"	"01804"	"MKRN3_000011"	"g.23812277C>T"	""	""	""	"MKRN3(NM_005664.3):c.1348C>T (p.(Arg450*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001066165"	"0"	"70"	"15"	"23811411"	"23811411"	"del"	"0"	"02325"	"MKRN3_000013"	"g.23811411del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## 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 MKRN3
## Count = 12
"{{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}}"
"0000066428"	"00013665"	"70"	"983"	"0"	"983"	"0"	"c.983G>A"	"r.(?)"	"p.(Arg328His)"	"1"
"0000323897"	"00013665"	"50"	"425"	"0"	"425"	"0"	"c.425G>C"	"r.(?)"	"p.(Gly142Ala)"	""
"0000340902"	"00013665"	"10"	"663"	"0"	"663"	"0"	"c.663C>T"	"r.(?)"	"p.(Pro221=)"	""
"0000349804"	"00013665"	"70"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Trp442Ter)"	""
"0000472244"	"00013665"	"90"	"326"	"0"	"326"	"0"	"c.326G>A"	"r.(?)"	"p.(Cys109Tyr)"	""
"0000615169"	"00013665"	"70"	"547"	"0"	"547"	"0"	"c.547G>T"	"r.(?)"	"p.(Glu183Ter)"	""
"0000657530"	"00013665"	"30"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68Cys)"	""
"0000724954"	"00013665"	"70"	"227"	"0"	"227"	"0"	"c.227del"	"r.(?)"	"p.(Pro76GlnfsTer95)"	""
"0000724955"	"00013665"	"50"	"494"	"0"	"494"	"0"	"c.494C>T"	"r.(?)"	"p.(Ser165Phe)"	""
"0000919375"	"00013665"	"50"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.(?)"	"p.(Pro362Leu)"	""
"0001001249"	"00013665"	"50"	"1348"	"0"	"1348"	"0"	"c.1348C>T"	"r.(?)"	"p.(Arg450*)"	""
"0001066165"	"00013665"	"70"	"482"	"0"	"482"	"0"	"c.482del"	"r.(?)"	"p.(Pro161Argfs*10)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000038756"	"0000066428"
"0000230669"	"0000472244"
"0000433734"	"0000919375"